human-LPL
Homo sapiens (Human) Lipoprotein lipase LPL, LIPD
Comment
Lipoprotein lipase (LPL) is a key enzyme of lipid metabolism that hydrolyses triglycerides, providing free fatty acids for cells and affecting the maturation of circulating lipoproteins. The enzyme is thought to play a role in the development of obesity and atherosclerosis. LPL hydrolyse triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium. LPL interacts with accessory protein glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1). Defects in LPL are a cause of familial chylomicronemia syndrome (or type I hyperlipoproteinemia) and also of a form of deficiency characterised by hypertriglyceridemia. Familial chylomicronemia is a recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. Endothelial lipase (encoded by the LIPG gene) regulates the circulating level of high density lipoprotein cholesterol (HDL-C). It can also form a molecular bridge between endothelial cells and lipoproteins or circulating macrophages through interaction with heparan sulfate proteoglycans. This nonenzymatic action can increase cellular lipoprotein uptake and monocyte adhesion and contribute to atherosclerosis. LPL is a secreted glycoprotein that contains five disulfide bonds and requires an endoplasmic reticulum (ER) protein, lipase maturation factor 1 (LMF1), to successfully fold and traffic out of the ER to the Golgi. LPL is sorted into vesicles in an inactive state: helical LPL oligomer. LPL secretion is mediated by Syndecan-1 (SDC1), a heparan sulfate proteoglycan (HSPG). Stored LPL can be secreted into the interstitial space, where it interacts with HSPGs that bind to the multiple heparin binding sites on each LPL molecule . LPL is next bound by glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) and transported into the capillary, where it acts on chylomicrons and very-low-density lipoproteins (VLDLs) to hydrolyze packaged triglycerides and release FFAs. The angiopoietin-like (ANGPTL) family of proteins inhibit LPL in different tissues.
Relationship
Family : Lipoprotein_Lipase
Block : L
Position in NCBI Life Tree : Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N EMolecular evidence
2.1kbdel_human-LPL
2kbdup_human-LPL
3bpdelInt1_human-LPL
6kbdel_human-LPL
A125T_human-LPL
A12GfsX29_human-LPL
A185T_human-LPL
A203T_human-LPL
A248fsX3_human-LPL
A26KfsX13_human-LPL
A288T_human-LPL
A361T_human-LPL
A427T_human-LPL
A97FfsX52_human-LPL
A97fsX49_human-LPL
A98T_human-LPL
A98V_human-LPL
C243S_human-LPL
C266W_human-LPL
C266X_human-LPL
C291X_human-LPL
C291Y_human-LPL
C302S_human-LPL
C305R_human-LPL
C310R_human-LPL
C310Y_human-LPL
C445Y_human-LPL
C54X_human-LPL
D183G_human-LPL
D183H_human-LPL
D183N_human-LPL
D201V_human-LPL
D207E_human-LPL
D231E_human-LPL
D242N_human-LPL
D277N_human-LPL
D308GfsX3_human-LPL
D36N_human-LPL
E143D_human-LPL
E190G_human-LPL
E269K_human-LPL
E282X_human-LPL
E396V_human-LPL
E437K_human-LPL
E437V_human-LPL
E448K_human-LPL
E62RfsX27_human-LPL
F297L_human-LPL
F351L_human-LPL
F391X_human-LPL
G132R_human-LPL
G166S_human-LPL
G169E_human-LPL
G181S_human-LPL
G181V_human-LPL
G186E_human-LPL
G215E_human-LPL
G215R_human-LPL
G218VfsX34_human-LPL
G222E_human-LPL
G237D_human-LPL
G256TfsX26_human-LPL
G351R_human-LPL
G436R_human-LPL
G81D_human-LPL
H154R_human-LPL
H163R_human-LPL
H183Q_human-LPL
H210D_human-LPL
H210L_human-LPL
H229R_human-LPL
H268Y_human-LPL
H71Q_human-LPL
H80R_human-LPL
I109T_human-LPL
I221T_human-LPL
I232S_human-LPL
I252T_human-LPL
IVS1+1G>C_human-LPL
IVS1+1G>T+2T>G_human-LPL
IVS1-1G>A_human-LPL
IVS1-1G>C_human-LPL
IVS2+1G>A_human-LPL
IVS2-1G>A_human-LPL
IVS3_human-LPL
IVS6_human-LPL
IVS7+1G>A_human-LPL
IVS8+2T>C_human-LPL
IVS8_495T>G_human-LPL
K225R_human-LPL
K307AfsX6_human-LPL
K312insC_human-LPL
K434N_human-LPL
L155P_human-LPL
L279R_human-LPL
L279V_human-LPL
L279VfsX3_human-LPL
L286P_human-LPL
L303F_human-LPL
L313P_human-LPL
L330P_human-LPL
L380X_human-LPL
L392V_human-LPL
M1I_human-LPL
M328I_human-LPL
M328R_human-LPL
M328T_human-LPL
M404R_human-LPL
N147TfsX24_human-LPL
N147fs_human-LPL
N281MfsX23_human-LPL
N308GfsX4_human-LPL
N318IfsX304_human-LPL
N318S_human-LPL
N70S_human-LPL
P184R_human-LPL
P234L_human-LPL
P241S_human-LPL
P337R_human-LPL
Q133X_human-LPL
Q16EfsX23_human-LPL
Q262X_human-LPL
Q267H_human-LPL
Q30X_human-LPL
R102S_human-LPL
R102fs44X
R116P_human-LPL
R116Q_human-LPL
R197H_human-LPL
R197L_human-LPL
R214I_human-LPL
R255DfsX8_human-LPL
R270C_human-LPL
R270G_human-LPL
R270H_human-LPL
R309AfsX22_human-LPL
R309AfsX8_human-LPL
R333H_human-LPL
R432T_human-LPL
R44KfsX4_human-LPL
S196C_human-LPL
S199C_human-LPL
S199fsX7_human-LPL
S220R_human-LPL
S271T_human-LPL
S278C_human-LPL
S286G_human-LPL
S286R_human-LPL
S325R_human-LPL
S350C_human-LPL
S365F_human-LPL
S423_P424del_human-LPL
S474X_human-LPL
S63F_human-LPL
T128A_human-LPL
T180A_human-LPL
T211K_human-LPL
T361insA_human-LPL
T379A_human-LPL
T379I_human-LPL
T83del_human-LPL
T85KfsX13_human-LPL
V111L_human-LPL
V208I_human-LPL
V227A_human-LPL
V227F_human-LPL
V340GfsX13_human-LPL
V370M_human-LPL
V442G_human-LPL
V64M_human-LPL
V96L_human-LPL
V96fs_human-LPL
W113G_human-LPL
W113R_human-LPL
W14X_human-LPL
W409X_human-LPL
W420X_human-LPL
W421X_human-LPL
W91X_human-LPL
Y100X_human-LPL
Y158D_human-LPL
Y289H_human-LPL
Y315X_human-LPL
Y329X_human-LPL
Y88X_human-LPL
c-39T>C_human-LPL
c-93T>G_human-LPL
c.88+2T>G\/c.56C>G_human-LPL
delTot_human-LPL
6E7K - Structure of the lipoprotein lipase GPIHBP1 complex that mediates plasma triglyceride hydrolysis
6OAU - Apo structure of WT lipoprotein lipase in complex with GPIHBP1 mutant N78D N82D produced in GnTI-deficient HEK293-F cells
6OAZ - Apo structure of WT lipoprotein lipase in complex with GPIHBP1 mutant N78D N82D produced in HEK293-F cells
6OB0 - Compound 2 bound structure of WT lipoprotein lipase in complex with GPIHBP1 mutant N78D N82D produced in HEK293-F cells
No kinetic
No substrate
No inhibitor
Database
Sequence
Peptide
MESKALLVLT LAVWLQSLTA SRGGVAAADQ RRDFIDIESK FALRTPEDTA EDTCHLIPGV AESVATCHFN HSSKTFMVIH GWTVTGMYES WVPKLVAALY KREPDSNVIV VDWLSRAQEH YPVSAGYTKL VGQDVARFIN WMEEEFNYPL DNVHLLGYSL GAHAAGIAGS LTNKKVNRIT GLDPAGPNFE YAEAPSRLSP DDADFVDVLH TFTRGSPGRS IGIQKPVGHV DIYPNGGTFQ PGCNIGEAIR VIAERGLGDV DQLVKCSHER SIHLFIDSLL NEENPSKAYR CSSKEAFEKG LCLSCRKNRC NNLGYEINKV RAKRSSKMYL KTRSQMPYKV FHYQVKIHFS GTESETHTNQ AFEISLYGTV AESENIPFTL PEVSTNKTYS FLIYTEVDIG ELLMLKLKWK SDSYFSWSDW WSSPGFAIQK IRVKAGETQK KVIFCSREKV SHLQKGKAPA VFVKCHDKSL NKKSG
References (188)
| Title : Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability - Dagli-Hernandez_2024_Pharmacogenet.Genomics_34_91 |
| Author(s) : Dagli-Hernandez C , Ferreira GM , Freitas RCC , Borges JB , Oliveira VF , Goncalves RM , Faludi AA , Marcal E , Bastos GM , Bortolin RH , Hirata MH , Hirata RDC |
| Ref : Pharmacogenet Genomics , 34 :91 , 2024 |
| Abstract : |
| PubMedSearch : Dagli-Hernandez_2024_Pharmacogenet.Genomics_34_91 |
| PubMedID: 38682317 |
| Gene_locus related to this paper: human-LPL |
| Title : Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants - Hu_2024_Lipids.Health.Dis_23_92 |
| Author(s) : Hu Y , Chen JM , Zuo H , Pu N , Zhang G , Duan Y , Li G , Tong Z , Li W , Li B , Yang Q |
| Ref : Lipids Health Dis , 23 :92 , 2024 |
| Abstract : |
| PubMedSearch : Hu_2024_Lipids.Health.Dis_23_92 |
| PubMedID: 38561841 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589 |
| Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U |
| Ref : J Lipid Res , :100589 , 2024 |
| Abstract : |
| PubMedSearch : Bardey_2024_J.Lipid.Res__100589 |
| PubMedID: 38969064 |
| Gene_locus related to this paper: human-LPL |
| Title : Carboxyl-terminal sequences in APOA5 are important for suppressing ANGPTL3\/8 activity - Chen_2024_Proc.Natl.Acad.Sci.U.S.A_121_e2322332121 |
| Author(s) : Chen YQ , Yang Y , Zhen EY , Beyer TP , Li H , Wen Y , Ehsani M , Jackson N , Xie K , Jung H , Scheithauer JL , Kumari A , Birrane G , Russell AM , Balasubramaniam D , Liao Z , Siegel RW , Qian Y , Ploug M , Young SG , Konrad RJ |
| Ref : Proc Natl Acad Sci U S A , 121 :e2322332121 , 2024 |
| Abstract : |
| PubMedSearch : Chen_2024_Proc.Natl.Acad.Sci.U.S.A_121_e2322332121 |
| PubMedID: 38625948 |
| Gene_locus related to this paper: human-LPL |
| Title : Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population - Li_2024_Arch.Endocrinol.Metab_68_e230195 |
| Author(s) : Li Y , Cai H , Lin Y , Huang Z , Zhou A , Huang T , Zeng YE , Ye M , Guo G |
| Ref : Arch Endocrinol Metab , 68 :e230195 , 2024 |
| Abstract : |
| PubMedSearch : Li_2024_Arch.Endocrinol.Metab_68_e230195 |
| PubMedID: 38530959 |
| Gene_locus related to this paper: human-LPL |
| Title : Macromolecular Interactions of Lipoprotein Lipase (LPL) - Wheless_2024_Subcell.Biochem_104_139 |
| Author(s) : Wheless A , Gunn KH , Neher SB |
| Ref : Subcell Biochem , 104 :139 , 2024 |
| Abstract : |
| PubMedSearch : Wheless_2024_Subcell.Biochem_104_139 |
| PubMedID: 38963487 |
| Gene_locus related to this paper: human-LPL |
| Title : Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis - Heath_2024_JIMD.Rep_65_239 |
| Author(s) : Heath O , Allender B , Smith J , Savva E , Spencer L , Bannister EG , Brown NJ , Evans MS , Kiss S , Rozen TH , Yaplito-Lee J |
| Ref : JIMD Rep , 65 :239 , 2024 |
| Abstract : |
| PubMedSearch : Heath_2024_JIMD.Rep_65_239 |
| PubMedID: 38974610 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review - Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| Author(s) : Ain Q , Cevc M , Marusic T , Sikonja J , Sadiq F , Sustar U , Mlinaric M , Kovac J , Batool H , Khan MI , Trebusak Podkrajsek K , Bizjan BJ , Battelino T , Fras Z , Ajmal M , Groselj U |
| Ref : Front Endocrinol (Lausanne) , 15 :1387419 , 2024 |
| Abstract : |
| PubMedSearch : Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| PubMedID: 38911039 |
| Gene_locus related to this paper: human-LPL |
| Title : The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants - Shestopalov_2023_J.Obes_2023_7392513 |
| Author(s) : Shestopalov AV , Davydov VV , Tumanyan GT , Teplyakova ED , Shkurat TP , Mashkina EV , Shkurat MA , Gaponov AM , Sadova AA , Borisenko OV , Roumiantsev SA |
| Ref : J Obes , 2023 :7392513 , 2023 |
| Abstract : |
| PubMedSearch : Shestopalov_2023_J.Obes_2023_7392513 |
| PubMedID: 37901192 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein Lipase\/Apolipoprotein Cll Gene Polymorphism in Kurdish Patients With Severe Hypertriglyceridemia - Hussein_2023_Cureus_15_e46829 |
| Author(s) : Hussein K , Salih S , Al-Timimi D |
| Ref : Cureus , 15 :e46829 , 2023 |
| Abstract : |
| PubMedSearch : Hussein_2023_Cureus_15_e46829 |
| PubMedID: 37954769 |
| Gene_locus related to this paper: human-LPL |
| Title : Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis - Wu_2023_Kidney.Int.Rep_8_2428 |
| Author(s) : Wu H , Xu H , Lei S , Yang Z , Yang S , Du J , Zhou Y , Liu Y , Yang Y , Hu Z |
| Ref : Kidney Int Rep , 8 :2428 , 2023 |
| Abstract : |
| PubMedSearch : Wu_2023_Kidney.Int.Rep_8_2428 |
| PubMedID: 38025240 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |
| Title : The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function - Hu_2023_Lipids.Health.Dis_22_119 |
| Author(s) : Hu Y , Zhang G , Yang Q , Pu N , Li K , Li B , Cooper DN , Tong Z , Li W , Chen JM |
| Ref : Lipids Health Dis , 22 :119 , 2023 |
| Abstract : |
| PubMedSearch : Hu_2023_Lipids.Health.Dis_22_119 |
| PubMedID: 37550668 |
| Gene_locus related to this paper: human-LPL |
| Title : Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial - Rosenson_2023_Nat.Med__ |
| Author(s) : Rosenson RS , Gaudet D , Ballantyne CM , Baum SJ , Bergeron J , Kershaw EE , Moriarty PM , Rubba P , Whitcomb DC , Banerjee P , Gewitz A , Gonzaga-Jauregui C , McGinniss J , Ponda MP , Pordy R , Zhao J , Rader DJ |
| Ref : Nat Med , : , 2023 |
| Abstract : |
| PubMedSearch : Rosenson_2023_Nat.Med__ |
| PubMedID: 36879129 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase concentration in umbilical cord blood reflects neonatal birth weight - Sagara_2023_Clin.Chim.Acta__117275 |
| Author(s) : Sagara R , Hirayama S , Ueno T , Hori A , Kobori Y , Kai T , Nishioka E , Matsukawa T , Makino S , Miida T |
| Ref : Clinica Chimica Acta , :117275 , 2023 |
| Abstract : |
| PubMedSearch : Sagara_2023_Clin.Chim.Acta__117275 |
| PubMedID: 36870522 |
| Gene_locus related to this paper: human-LPL |
| Title : Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date - Zhang_2023_Lipids.Health.Dis_22_128 |
| Author(s) : Zhang G , Hu Y , Yang Q , Pu N , Li G , Zhang J , Tong Z , Masson E , Cooper DN , Chen JM , Li W |
| Ref : Lipids Health Dis , 22 :128 , 2023 |
| Abstract : |
| PubMedSearch : Zhang_2023_Lipids.Health.Dis_22_128 |
| PubMedID: 37568214 |
| Gene_locus related to this paper: human-LPL |
| Title : High producer variant of lipoprotein lipase may protect from hepatocellular carcinoma in alcohol-associated cirrhosis - Schmalz_2023_JHEP.Rep_5_100684 |
| Author(s) : Schmalz F , Fischer J , Innes H , Buch S , Moller C , Matz-Soja M , von Schonfels W , Kramer B , Langhans B , Kluners A , Soyka M , Stickel F , Nattermann J , Strassburg CP , Berg T , Lutz P , Nischalke HD |
| Ref : JHEP Rep , 5 :100684 , 2023 |
| Abstract : |
| PubMedSearch : Schmalz_2023_JHEP.Rep_5_100684 |
| PubMedID: 36879887 |
| Gene_locus related to this paper: human-LPL |
| Title : Structure of dimeric lipoprotein lipase reveals a pore adjacent to the active site - Gunn_2023_Nat.Commun_14_2569 |
| Author(s) : Gunn KH , Neher SB |
| Ref : Nat Commun , 14 :2569 , 2023 |
| Abstract : |
| PubMedSearch : Gunn_2023_Nat.Commun_14_2569 |
| PubMedID: 37142573 |
| Gene_locus related to this paper: human-LPL |
| Title : Inverse effects of APOC2 and ANGPTL4 on the conformational dynamics of lid-anchoring structures in lipoprotein lipase - Kumari_2023_Proc.Natl.Acad.Sci.U.S.A_120_e2221888120 |
| Author(s) : Kumari A , Gronnemose AL , Kristensen KK , Winther AL , Young SG , Jorgensen TJD , Ploug M |
| Ref : Proc Natl Acad Sci U S A , 120 :e2221888120 , 2023 |
| Abstract : |
| PubMedSearch : Kumari_2023_Proc.Natl.Acad.Sci.U.S.A_120_e2221888120 |
| PubMedID: 37094117 |
| Gene_locus related to this paper: human-LPL |
| Title : Long-Term Nutritional Counseling for a Patient with Lipoprotein Lipase Deficiency - Torii_2023_J.Atheroscler.Thromb__ |
| Author(s) : Torii T , Taniguchi-Fukatsu A , Kawawaki M , Shimoura Y , Ozaki K |
| Ref : J Atheroscler Thromb , : , 2023 |
| Abstract : |
| PubMedSearch : Torii_2023_J.Atheroscler.Thromb__ |
| PubMedID: 36878607 |
| Gene_locus related to this paper: human-LPL |
| Title : Rs15285, a functional polymorphism located in lipoprotein lipase, predicts the risk and prognosis of gastric cancer - Shen_2023_Appl.Microbiol.Biotechnol__ |
| Author(s) : Shen K , Zhou X , Hu L , Xiao J , Cheng Q , Wang Y , Liu K , Fan H , Xu Z , Yang L |
| Ref : Applied Microbiology & Biotechnology , : , 2023 |
| Abstract : |
| PubMedSearch : Shen_2023_Appl.Microbiol.Biotechnol__ |
| PubMedID: 37036527 |
| Gene_locus related to this paper: human-LPL |
| Title : Post-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome - Larouche_2023_Orphanet.J.Rare.Dis_18_167 |
| Author(s) : Larouche M , Brisson D , Morissette MC , Gaudet D |
| Ref : Orphanet J Rare Dis , 18 :167 , 2023 |
| Abstract : |
| PubMedSearch : Larouche_2023_Orphanet.J.Rare.Dis_18_167 |
| PubMedID: 37370069 |
| Gene_locus related to this paper: human-LPL |
| Title : Preclinical Development and Characterization of Novel Adeno-Associated Viral Vectors for the Treatment of Lipoprotein Lipase Deficiency - Mehta_2023_Hum.Gene.Ther__ |
| Author(s) : Mehta N , Gilbert R , Chahal PS , Moreno MJ , Nassoury N , Coulombe N , Lytvyn V , Mercier M , Fatehi D , Lin W , Harvey EM , Zhang LH , Moghaddam NN , Elahi SM , Ross CJD , Stanimirovic DB , Hayden MR |
| Ref : Hum Gene Therapy , : , 2023 |
| Abstract : |
| PubMedSearch : Mehta_2023_Hum.Gene.Ther__ |
| PubMedID: 37597209 |
| Gene_locus related to this paper: human-LPL |
| Title : Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report - Han_2022_Medicine.(Baltimore)_101_e29689 |
| Author(s) : Han L , Qiang G , Yang L , Kou R , Li Q , Xin M , Liu R , Zhang Z |
| Ref : Medicine (Baltimore) , 101 :e29689 , 2022 |
| Abstract : |
| PubMedSearch : Han_2022_Medicine.(Baltimore)_101_e29689 |
| PubMedID: 35960041 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations - Vigna_2022_J.Clin.Lipidol_16_591 |
| Author(s) : Vigna GB , Citroni N , Tarugi P , Fellin R |
| Ref : J Clin Lipidol , 16 :591 , 2022 |
| Abstract : |
| PubMedSearch : Vigna_2022_J.Clin.Lipidol_16_591 |
| PubMedID: 35945124 |
| Gene_locus related to this paper: human-LPL |
| Title : Homozygous familial lipoprotein lipase deficiency without obvious coronary artery stenosis - Minamizuka_2022_Clin.Biochem__ |
| Author(s) : Minamizuka T , Kobayashi J , Tada H , Koshizaka M , Maezawa Y , Yokote K |
| Ref : Clinical Biochemistry , : , 2022 |
| Abstract : |
| PubMedSearch : Minamizuka_2022_Clin.Biochem__ |
| PubMedID: 35820489 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report - Shi_2022_Transl.Pediatr_11_1717 |
| Author(s) : Shi H , Wang Z |
| Ref : Transl Pediatr , 11 :1717 , 2022 |
| Abstract : |
| PubMedSearch : Shi_2022_Transl.Pediatr_11_1717 |
| PubMedID: 36345447 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: a case report and review of literature - Huang_2022_Clin.Chim.Acta__ |
| Author(s) : Huang Y , Qin Y , Liao L , Lin F |
| Ref : Clinica Chimica Acta , : , 2022 |
| Abstract : |
| PubMedSearch : Huang_2022_Clin.Chim.Acta__ |
| PubMedID: 36252692 |
| Gene_locus related to this paper: human-LPL |
| Title : Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection - Thaneefa_2022_Clin.Chim.Acta__ |
| Author(s) : Thowfeek Zeenath Thaneefa M , Amarakoon G , Mendis D , Jasinge E , Hooper AJ , Burnett JR |
| Ref : Clinica Chimica Acta , : , 2022 |
| Abstract : |
| PubMedSearch : Thaneefa_2022_Clin.Chim.Acta__ |
| PubMedID: 35085586 |
| Gene_locus related to this paper: human-LPL |
| Title : Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency - Li_2022_Front.Genet_13_831133 |
| Author(s) : Li Y , Hu M , Han L , Feng L , Yang L , Chen X , Du T , Yao H |
| Ref : Front Genet , 13 :831133 , 2022 |
| Abstract : |
| PubMedSearch : Li_2022_Front.Genet_13_831133 |
| PubMedID: 35309119 |
| Gene_locus related to this paper: human-LPL |
| Title : Treatment of volanesorsen in a patient with familial chylmicronaemia syndrome (FCS) due to homozygous c.337T>C(p.TRP113ARG) - mutation and impact of dietary incompliance: A case report - De Gier_2022_Atherosclerosis_355_65 |
| Author(s) : De Gier C , Skacel G , Walleczek NK , Lischka J , Baumgartner M , Greber-Platzer S |
| Ref : Atherosclerosis , 355 :65 , 2022 |
| Abstract : |
| PubMedSearch : De Gier_2022_Atherosclerosis_355_65 |
| PubMedID: |
| Gene_locus related to this paper: human-LPL |
| Title : Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation-associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report - Zhang_2022_J.Diabetes.Investig_13_397 |
| Author(s) : Zhang X , Chen Y , Tong N , Shao Q , Zhou Y , Mu T , Yang X , Zhang Y |
| Ref : J Diabetes Investig , 13 :397 , 2022 |
| Abstract : |
| PubMedSearch : Zhang_2022_J.Diabetes.Investig_13_397 |
| PubMedID: 34460997 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia - Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| Author(s) : Wang S , Cheng Y , Shi Y , Zhao W , Gao L , Fang L , Jin X , Han X , Sun Q , Li G , Zhao J , Xu C |
| Ref : Front Endocrinol (Lausanne) , 13 :874608 , 2022 |
| Abstract : |
| PubMedSearch : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedID: 35923617 |
| Gene_locus related to this paper: human-LPL |
| Title : The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study - Thajer_2021_Children.(Basel)_8_1078 |
| Author(s) : Thajer A , Skacel G , De Gier C , Greber-Platzer S |
| Ref : Children (Basel) , 8 :1078 , 2021 |
| Abstract : |
| PubMedSearch : Thajer_2021_Children.(Basel)_8_1078 |
| PubMedID: 34828789 |
| Gene_locus related to this paper: human-LPL |
| Title : A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene - Li_2021_Stem.Cell.Res_53_102313 |
| Author(s) : Li Z , Zhang X , Li X , Yang Y , Xin H , Yang X , Liu N , Gai Z , Liu Y |
| Ref : Stem Cell Res , 53 :102313 , 2021 |
| Abstract : |
| PubMedSearch : Li_2021_Stem.Cell.Res_53_102313 |
| PubMedID: 34087978 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases - Wu_2021_BMC.Pediatr_21_414 |
| Author(s) : Wu YQ , Hu YY , Li GN |
| Ref : BMC Pediatr , 21 :414 , 2021 |
| Abstract : |
| PubMedSearch : Wu_2021_BMC.Pediatr_21_414 |
| PubMedID: 34544385 |
| Gene_locus related to this paper: human-LPL |
| Title : Two novel Mutations of the LPL Gene in two Chinese family cases with Familial Chylomicronemia Syndrome - Wang_2021_Clin.Chim.Acta__ |
| Author(s) : Wang M , Zhou Y , He X , Deng C , Liu X , Li J , Zhou L , Li Y , Zhang Y , Liu H , Li L |
| Ref : Clinica Chimica Acta , : , 2021 |
| Abstract : |
| PubMedSearch : Wang_2021_Clin.Chim.Acta__ |
| PubMedID: 34324844 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein Lipase and Its Regulators: An Unfolding Story - Wu_2021_Trends.Endocrinol.Metab_32_48 |
| Author(s) : Wu SA , Kersten S , Qi L |
| Ref : Trends Endocrinol Metab , 32 :48 , 2021 |
| Abstract : |
| PubMedSearch : Wu_2021_Trends.Endocrinol.Metab_32_48 |
| PubMedID: 33277156 |
| Gene_locus related to this paper: human-LPL |
| Title : The intrinsic instability of the hydrolase domain of lipoprotein lipase facilitates its inactivation by ANGPTL4-catalyzed unfolding - Leth-Espensen_2021_Proc.Natl.Acad.Sci.U.S.A_118_e2026650118 |
| Author(s) : Leth-Espensen KZ , Kristensen KK , Kumari A , Winther AL , Young SG , Jorgensen TJD , Ploug M |
| Ref : Proc Natl Acad Sci U S A , 118 : , 2021 |
| Abstract : |
| PubMedSearch : Leth-Espensen_2021_Proc.Natl.Acad.Sci.U.S.A_118_e2026650118 |
| PubMedID: 33723082 |
| Gene_locus related to this paper: human-LPL |
| Title : Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing - Liu_2020_Front.Genet_11_741 |
| Author(s) : Liu Y , Lan Z , Zhao F , Zhang S , Zhang W |
| Ref : Front Genet , 11 :741 , 2020 |
| Abstract : |
| PubMedSearch : Liu_2020_Front.Genet_11_741 |
| PubMedID: 32765589 |
| Gene_locus related to this paper: human-LPL |
| Title : The structure of helical lipoprotein lipase reveals an unexpected twist in lipase storage - Gunn_2020_Proc.Natl.Acad.Sci.U.S.A_117_10254 |
| Author(s) : Gunn KH , Roberts BS , Wang F , Strauss JD , Borgnia MJ , Egelman EH , Neher SB |
| Ref : Proc Natl Acad Sci U S A , 117 :10254 , 2020 |
| Abstract : |
| PubMedSearch : Gunn_2020_Proc.Natl.Acad.Sci.U.S.A_117_10254 |
| PubMedID: 32332168 |
| Gene_locus related to this paper: bovin-lipli , human-LPL |
| Title : Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy - Shi_2020_Mol.Genet.Genomic.Med__e1048 |
| Author(s) : Shi XL , Yang Q , Pu N , Li XY , Chen WW , Zhou J , Li G , Tong ZH , Ferec C , Cooper DN , Chen JM , Li WQ |
| Ref : Mol Genet Genomic Med , :e1048 , 2020 |
| Abstract : |
| PubMedSearch : Shi_2020_Mol.Genet.Genomic.Med__e1048 |
| PubMedID: 31962008 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment - Gallo_2020_Curr.Atheroscler.Rep_22_63 |
| Author(s) : Gallo A , Beliard S , D'Erasmo L , Bruckert E |
| Ref : Curr Atheroscler Rep , 22 :63 , 2020 |
| Abstract : |
| PubMedSearch : Gallo_2020_Curr.Atheroscler.Rep_22_63 |
| PubMedID: 32852651 |
| Gene_locus related to this paper: human-LPL |
| Title : Corrigendum to Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran [Gene 706 (2019) 13-18] - |
| Author(s) : Alinaghian N , Abdollahi E , Torab M , Khodaparast M , Zamani F , Rahimi-Moghaddam P |
| Ref : Gene , 725 :144152 , 2020 |
| PubMedID: 31614191 |
| Gene_locus related to this paper: human-LPL |
| Title : Unfolding of monomeric lipoprotein lipase by ANGPTL4: Insight into the regulation of plasma triglyceride metabolism - Kristensen_2020_Proc.Natl.Acad.Sci.U.S.A__ |
| Author(s) : Kristensen KK , Leth-Espensen KZ , Mertens HDT , Birrane G , Meiyappan M , Olivecrona G , Jorgensen TJD , Young SG , Ploug M |
| Ref : Proc Natl Acad Sci U S A , : , 2020 |
| Abstract : |
| PubMedSearch : Kristensen_2020_Proc.Natl.Acad.Sci.U.S.A__ |
| PubMedID: 32034094 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
| Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
| Ref : Clinica Chimica Acta , 500 :163 , 2020 |
| Abstract : |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| Title : The association of the S447X mutation in LPL with Coronary artery disease: a meta-analysis - Sun_2019_Minerva.Cardioangiol_67_246 |
| Author(s) : Sun W , Wu Y , Wen Y , Guo M , Zhang H |
| Ref : Minerva Cardioangiol , 67 :246 , 2019 |
| Abstract : |
| PubMedSearch : Sun_2019_Minerva.Cardioangiol_67_246 |
| PubMedID: 29687697 |
| Gene_locus related to this paper: human-LPL |
| Title : Structure of lipoprotein lipase in complex with GPIHBP1 - Arora_2019_Proc.Natl.Acad.Sci.U.S.A_116_10360 |
| Author(s) : Arora R , Nimonkar AV , Baird D , Wang C , Chiu CH , Horton PA , Hanrahan S , Cubbon R , Weldon S , Tschantz WR , Mueller S , Brunner R , Lehr P , Meier P , Ottl J , Voznesensky A , Pandey P , Smith TM , Stojanovic A , Flyer A , Benson TE , Romanowski MJ , Trauger JW |
| Ref : Proc Natl Acad Sci U S A , 116 :10360 , 2019 |
| Abstract : |
| PubMedSearch : Arora_2019_Proc.Natl.Acad.Sci.U.S.A_116_10360 |
| PubMedID: 31072929 |
| Gene_locus related to this paper: human-LPL |
| Title : Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis - Birrane_2019_Proc.Natl.Acad.Sci.U.S.A_116_1723 |
| Author(s) : Birrane G , Beigneux AP , Dwyer B , Strack-Logue B , Kristensen KK , Francone OL , Fong LG , Mertens HDT , Pan CQ , Ploug M , Young SG , Meiyappan M |
| Ref : Proc Natl Acad Sci U S A , 116 :1723 , 2019 |
| Abstract : |
| PubMedSearch : Birrane_2019_Proc.Natl.Acad.Sci.U.S.A_116_1723 |
| PubMedID: 30559189 |
| Gene_locus related to this paper: human-LPL |
| Title : Characterization of ANGPTL4 function in macrophages and adipocytes using Angptl4-knockout and Angptl4-hypomorphic mice - Oteng_2019_J.Lipid.Res_60_1741 |
| Author(s) : Oteng AB , Ruppert PMM , Boutens L , Dijk W , van Dierendonck X , Olivecrona G , Stienstra R , Kersten S |
| Ref : J Lipid Res , 60 :1741 , 2019 |
| Abstract : |
| PubMedSearch : Oteng_2019_J.Lipid.Res_60_1741 |
| PubMedID: 31409739 |
| Gene_locus related to this paper: human-LPL |
| Title : GPIHBP1 and Lipoprotein Lipase, Partners in Plasma Triglyceride Metabolism - Young_2019_Cell.Metab_30_51 |
| Author(s) : Young SG , Fong LG , Beigneux AP , Allan CM , He C , Jiang H , Nakajima K , Meiyappan M , Birrane G , Ploug M |
| Ref : Cell Metab , 30 :51 , 2019 |
| Abstract : |
| PubMedSearch : Young_2019_Cell.Metab_30_51 |
| PubMedID: 31269429 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase is active as a monomer - Beigneux_2019_Proc.Natl.Acad.Sci.U.S.A_116_6319 |
| Author(s) : Beigneux AP , Allan CM , Sandoval NP , Cho GW , Heizer PJ , Jung RS , Stanhope KL , Havel PJ , Birrane G , Meiyappan M , Gill JEt , Murakami M , Miyashita K , Nakajima K , Ploug M , Fong LG , Young SG |
| Ref : Proc Natl Acad Sci U S A , 116 :6319 , 2019 |
| Abstract : |
| PubMedSearch : Beigneux_2019_Proc.Natl.Acad.Sci.U.S.A_116_6319 |
| PubMedID: 30850549 |
| Gene_locus related to this paper: human-LPL |
| Title : Deciphering the role of V200A and N291S mutations leading to LPL deficiency - Botta_2019_Atherosclerosis_282_45 |
| Author(s) : Botta M , Maurer E , Ruscica M , Romeo S , Stulnig TM , Pingitore P |
| Ref : Atherosclerosis , 282 :45 , 2019 |
| Abstract : |
| PubMedSearch : Botta_2019_Atherosclerosis_282_45 |
| PubMedID: 30685441 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum - Roberts_2018_EMBO.J_37_ |
| Author(s) : Roberts BS , Babilonia-Rosa MA , Broadwell LJ , Wu MJ , Neher SB |
| Ref : EMBO Journal , 37 : , 2018 |
| Abstract : |
| PubMedSearch : Roberts_2018_EMBO.J_37_ |
| PubMedID: 30068531 |
| Gene_locus related to this paper: human-LPL |
| Title : The HindIII and PvuII polymorphisms of lipoprotein lipase (LPL) gene reduce the risk of ischemic stroke (IS): A meta-analysis - Cao_2018_Medicine.(Baltimore)_97_e0483 |
| Author(s) : Cao L , Li Q , Chen X |
| Ref : Medicine (Baltimore) , 97 :e0483 , 2018 |
| Abstract : |
| PubMedSearch : Cao_2018_Medicine.(Baltimore)_97_e0483 |
| PubMedID: 29718838 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis - Li_2018_Lipids.Health.Dis_17_144 |
| Author(s) : Li X , Yang Q , Shi X , Chen W , Pu N , Li W , Li J |
| Ref : Lipids Health Dis , 17 :144 , 2018 |
| Abstract : |
| PubMedSearch : Li_2018_Lipids.Health.Dis_17_144 |
| PubMedID: 29921298 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia - Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| Author(s) : Caddeo A , Mancina RM , Pirazzi C , Russo C , Sasidharan K , Sandstedt J , Maurotti S , Montalcini T , Pujia A , Leren TP , Romeo S , Pingitore P |
| Ref : Nutr Metab Cardiovasc Dis , 28 :158 , 2018 |
| Abstract : |
| PubMedSearch : Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| PubMedID: 29288010 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare LPL gene missense mutation in an infant with hypertriglyceridemia - Qin_2018_J.Clin.Lab.Anal_32_e22414 |
| Author(s) : Qin YY , Wei AQ , Shan QW , Xian XY , Wu YY , Liao L , Yan J , Lai ZF , Lin FQ |
| Ref : J Clin Lab Anal , 32 :e22414 , 2018 |
| Abstract : |
| PubMedSearch : Qin_2018_J.Clin.Lab.Anal_32_e22414 |
| PubMedID: 29479812 |
| Gene_locus related to this paper: human-LPL |
| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : The heterozygous N291S mutation in the lipoprotein lipase gene impairs whole-body insulin sensitivity and affects a distinct set of plasma metabolites in humans - Berg_2017_J.Clin.Lipidol_11_515 |
| Author(s) : Berg SM , Havelund J , Hasler-Sheetal H , Kruse V , Pedersen AJT , Hansen AB , Nybo M , Beck-Nielsen H , Hojlund K , Faergeman NJ |
| Ref : J Clin Lipidol , 11 :515 , 2017 |
| Abstract : |
| PubMedSearch : Berg_2017_J.Clin.Lipidol_11_515 |
| PubMedID: 28502509 |
| Gene_locus related to this paper: human-LPL |
| Title : Eruptive Xanthomas in Lipoprotein Lipase Deficiency - |
| Author(s) : Buonuomo PS , Malamisura M , Macchiaiolo M , Rana I , Gonfiantini MV , Mastrogiorgio G , Bartuli A |
| Ref : J Pediatr , 187 :330 , 2017 |
| PubMedID: 28529016 |
| Gene_locus related to this paper: human-LPL |
| Title : The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study - Davidson_2017_Expert.Rev.Cardiovasc.Ther_15_415 |
| Author(s) : Davidson M , Stevenson M , Hsieh A , Ahmad Z , Crowson C , Witztum JL |
| Ref : Expert Rev Cardiovasc Ther , 15 :415 , 2017 |
| Abstract : |
| PubMedSearch : Davidson_2017_Expert.Rev.Cardiovasc.Ther_15_415 |
| PubMedID: 28338353 |
| Gene_locus related to this paper: human-LPL |
| Title : Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake - Hayne_2017_Biochemistry_56_525 |
| Author(s) : Hayne CK , Lafferty MJ , Eglinger BJ , Kane JP , Neher SB |
| Ref : Biochemistry , 56 :525 , 2017 |
| Abstract : |
| PubMedSearch : Hayne_2017_Biochemistry_56_525 |
| PubMedID: 27984852 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipemia retinalis in 1-month-old infant - Jain_2017_Oman.J.Ophthalmol_10_50 |
| Author(s) : Jain NC , Vanteri J , Shah PK , Narendran V |
| Ref : Oman J Ophthalmol , 10 :50 , 2017 |
| Abstract : |
| PubMedSearch : Jain_2017_Oman.J.Ophthalmol_10_50 |
| PubMedID: 28298868 |
| Gene_locus related to this paper: human-LPL |
| Title : Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease - Khera_2017_JAMA_317_937 |
| Author(s) : Khera AV , Won HH , Peloso GM , O'Dushlaine C , Liu D , Stitziel NO , Natarajan P , Nomura A , Emdin CA , Gupta N , Borecki IB , Asselta R , Duga S , Merlini PA , Correa A , Kessler T , Wilson JG , Bown MJ , Hall AS , Braund PS , Carey DJ , Murray MF , Kirchner HL , Leader JB , Lavage DR , Manus JN , Hartzel DN , Samani NJ , Schunkert H , Marrugat J , Elosua R , McPherson R , Farrall M , Watkins H , Lander ES , Rader DJ , Danesh J , Ardissino D , Gabriel S , Willer C , Abecasis GR , Saleheen D , Dewey FE , Kathiresan S |
| Ref : Jama , 317 :937 , 2017 |
| Abstract : |
| PubMedSearch : Khera_2017_JAMA_317_937 |
| PubMedID: 28267856 |
| Gene_locus related to this paper: human-LPL |
| Title : Regulation of secretion and enzymatic activity of lipoprotein lipase by C-mannosylation - Okamoto_2017_Biochem.Biophys.Res.Commun_486_558 |
| Author(s) : Okamoto S , Murano T , Suzuki T , Uematsu S , Niwa Y , Sasazawa Y , Dohmae N , Bujo H , Simizu S |
| Ref : Biochemical & Biophysical Research Communications , 486 :558 , 2017 |
| Abstract : |
| PubMedSearch : Okamoto_2017_Biochem.Biophys.Res.Commun_486_558 |
| PubMedID: 28327359 |
| Gene_locus related to this paper: human-LPL |
| Title : The role of plasma lipoprotein lipase, hepatic lipase and GPIHBP1 in the metabolism of remnant lipoproteins and small dense LDL in patients with coronary artery disease - Muraba_2017_Clin.Chim.Acta_476_146 |
| Author(s) : Muraba Y , Koga T , Shimomura Y , Ito Y , Hirao Y , Kobayashi J , Kimura T , Nakajima K , Murakami M |
| Ref : Clinica Chimica Acta , 476 :146 , 2017 |
| Abstract : |
| PubMedSearch : Muraba_2017_Clin.Chim.Acta_476_146 |
| PubMedID: 29174344 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R\/E396V) in a Chinese family associated with recurrent acute pancreatitis - Lun_2017_Oncotarget_8_47741 |
| Author(s) : Lun Y , Sun X , Wang P , Chi J , Hou X , Wang Y |
| Ref : Oncotarget , 8 :47741 , 2017 |
| Abstract : |
| PubMedSearch : Lun_2017_Oncotarget_8_47741 |
| PubMedID: 28548960 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis - |
| Author(s) : Vidanapathirana DM , Rodrigo T , Waidyanatha S , Jasinge E , Hooper AJ , Burnett JR |
| Ref : Glob Pediatr Health , 4 :2333794X17715839 , 2017 |
| PubMedID: 28695157 |
| Gene_locus related to this paper: human-LPL |
| Title : Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses - Murase_2017_J.Clin.Lipidol_11_1383 |
| Author(s) : Murase T , Okubo M , Ebara T , Mori Y |
| Ref : J Clin Lipidol , 11 :1383 , 2017 |
| Abstract : |
| PubMedSearch : Murase_2017_J.Clin.Lipidol_11_1383 |
| PubMedID: 28958672 |
| Gene_locus related to this paper: human-LPL |
| Title : Building a better understanding of the burden of disease in familial chylomicronemia syndrome - |
| Author(s) : Ahmad Z , Halter R , Stevenson M |
| Ref : Expert Rev Clin Pharmacol , 10 :1 , 2017 |
| PubMedID: 27771961 |
| Gene_locus related to this paper: human-LPL |
| Title : The D9N, N291S, and T495G Polymorphisms of the Lipoprotein Lipase Gene Are Not Associated with Cerebral Infarction - Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| Author(s) : Ceja-Espiritu G , Delgado-Enciso I , Ramirez-Flores M , Guzman-Esquivel J , Baltazar-Rodriguez LM |
| Ref : J Stroke Cerebrovasc Dis , 25 :985 , 2016 |
| Abstract : |
| PubMedSearch : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| PubMedID: 26853140 |
| Gene_locus related to this paper: human-LPL |
| Title : Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis - Gaudet_2016_Hum.Gene.Ther_27_916 |
| Author(s) : Gaudet D , Stroes ES , Methot J , Brisson D , Tremblay K , Bernelot Moens SJ , Iotti G , Rastelletti I , Ardigo D , Corzo D , Meyer C , Andersen M , Ruszniewski P , Deakin M , Bruno MJ |
| Ref : Hum Gene Therapy , 27 :916 , 2016 |
| Abstract : |
| PubMedSearch : Gaudet_2016_Hum.Gene.Ther_27_916 |
| PubMedID: 27412455 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome - Zhang_2016_Lipids.Health.Dis_15_88 |
| Author(s) : Zhang Y , Zhou J , Zheng W , Lan Z , Huang Z , Yang Q , Liu C , Gao R |
| Ref : Lipids Health Dis , 15 :88 , 2016 |
| Abstract : |
| PubMedSearch : Zhang_2016_Lipids.Health.Dis_15_88 |
| PubMedID: 27153815 |
| Gene_locus related to this paper: human-LPL |
| Title : Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency - Rodrigues_2016_J.Clin.Lipidol_10_394 |
| Author(s) : Rodrigues R , Artieda M , Tejedor D , Martinez A , Konstantinova P , Petry H , Meyer C , Corzo D , Sundgreen C , Klor HU , Gouni-Berthold I , Westphal S , Steinhagen-Thiessen E , Julius U , Winkler K , Stroes E , Vogt A , Hardt P , Prophet H , Otte B , Nordestgaard BG , Deeb SS , Brunzell JD |
| Ref : J Clin Lipidol , 10 :394 , 2016 |
| Abstract : |
| PubMedSearch : Rodrigues_2016_J.Clin.Lipidol_10_394 |
| PubMedID: 27055971 |
| Gene_locus related to this paper: human-LPL |
| Title : The angiopoietin-like protein ANGPTL4 catalyzes unfolding of the hydrolase domain in lipoprotein lipase and the endothelial membrane protein GPIHBP1 counteracts this unfolding - Mysling_2016_Elife_5_e20958 |
| Author(s) : Mysling S , Kristensen KK , Larsson M , Kovrov O , Bensadouen A , Jorgensen TJ , Olivecrona G , Young SG , Ploug M |
| Ref : Elife , 5 : , 2016 |
| Abstract : |
| PubMedSearch : Mysling_2016_Elife_5_e20958 |
| PubMedID: 27929370 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach - Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| Author(s) : Khovidhunkit W , Charoen S , Kiateprungvej A , Chartyingcharoen P , Muanpetch S , Plengpanich W |
| Ref : J Clin Lipidol , 10 :505 , 2016 |
| Abstract : |
| PubMedSearch : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| PubMedID: 27206937 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia - Pingitore_2016_J.Clin.Lipidol_10_816 |
| Author(s) : Pingitore P , Lepore SM , Pirazzi C , Mancina RM , Motta BM , Valenti L , Berge KE , Retterstol K , Leren TP , Wiklund O , Romeo S |
| Ref : J Clin Lipidol , 10 :816 , 2016 |
| Abstract : |
| PubMedSearch : Pingitore_2016_J.Clin.Lipidol_10_816 |
| PubMedID: 27578112 |
| Gene_locus related to this paper: human-LPL |
| Title : Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants - Kassner_2015_Eur.J.Hum.Genet_23_1259 |
| Author(s) : Kassner U , Salewsky B , Wuhle-Demuth M , Szijarto IA , Grenkowitz T , Binner P , Marz W , Steinhagen-Thiessen E , Demuth I |
| Ref : Eur J Hum Genet , 23 :1259 , 2015 |
| Abstract : |
| PubMedSearch : Kassner_2015_Eur.J.Hum.Genet_23_1259 |
| PubMedID: 25585702 |
| Gene_locus related to this paper: human-LPL |
| Title : Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene - Soto_2015_Lipids.Health.Dis_14_102 |
| Author(s) : Soto AG , McIntyre A , Agrawal S , Bialo SR , Hegele RA , Boney CM |
| Ref : Lipids Health Dis , 14 :102 , 2015 |
| Abstract : |
| PubMedSearch : Soto_2015_Lipids.Health.Dis_14_102 |
| PubMedID: 26337181 |
| Gene_locus related to this paper: human-LPL |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F |
| Ref : Clinica Chimica Acta , 429 :61 , 2014 |
| Abstract : |
| PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| PubMedID: 24291057 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis - Chen_2014_Lipids.Health.Dis_13_52 |
| Author(s) : Chen TZ , Xie SL , Jin R , Huang ZM |
| Ref : Lipids Health Dis , 13 :52 , 2014 |
| Abstract : |
| PubMedSearch : Chen_2014_Lipids.Health.Dis_13_52 |
| PubMedID: 24646025 |
| Gene_locus related to this paper: human-LPL |
| Title : Role of SN1 lipases on plasma lipids in metabolic syndrome and obesity - Miksztowicz_2014_Arterioscler.Thromb.Vasc.Biol_34_669 |
| Author(s) : Miksztowicz V , Schreier L , McCoy M , Lucero D , Fassio E , Billheimer J , Rader DJ , Berg G |
| Ref : Arterioscler Thromb Vasc Biol , 34 :669 , 2014 |
| Abstract : |
| PubMedSearch : Miksztowicz_2014_Arterioscler.Thromb.Vasc.Biol_34_669 |
| PubMedID: 24458708 |
| Gene_locus related to this paper: human-LIPC , human-LPL , human-LIPG |
| Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287 |
| Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A |
| Ref : J Clin Lipidol , 8 :287 , 2014 |
| Abstract : |
| PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedID: 24793350 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel Lipoprotein lipase (LPL) agonist rescues the enzyme from inhibition by angiopoietin-like 4 (ANGPTL4) - Geldenhuys_2014_Bioorg.Med.Chem.Lett_24_2163 |
| Author(s) : Geldenhuys WJ , Aring D , Sadana P |
| Ref : Bioorganic & Medicinal Chemistry Lett , 24 :2163 , 2014 |
| Abstract : |
| PubMedSearch : Geldenhuys_2014_Bioorg.Med.Chem.Lett_24_2163 |
| PubMedID: 24703657 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia - Hooper_2014_Ann.Clin.Biochem_51_485 |
| Author(s) : Hooper AJ , Kurtkoti J , Hamilton-Craig I , Burnett JR |
| Ref : Annals of Clinical Biochemistry , 51 :485 , 2014 |
| Abstract : |
| PubMedSearch : Hooper_2014_Ann.Clin.Biochem_51_485 |
| PubMedID: 24591733 |
| Gene_locus related to this paper: human-LPL |
| Title : A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment - Stefanutti_2013_Atheroscler.Suppl_14_73 |
| Author(s) : Stefanutti C , Gozzer M , Pisciotta L , D'Eufemia P , Bosco G , Morozzi C , Papadia F , Shafii M , Di Giacomo S , Bertolini S |
| Ref : Atheroscler Suppl , 14 :73 , 2013 |
| Abstract : |
| PubMedSearch : Stefanutti_2013_Atheroscler.Suppl_14_73 |
| PubMedID: 23357145 |
| Gene_locus related to this paper: human-LPL |
| Title : Biochemistry and pathophysiology of intravascular and intracellular lipolysis - Young_2013_Genes.Dev_27_459 |
| Author(s) : Young SG , Zechner R |
| Ref : Genes Dev , 27 :459 , 2013 |
| Abstract : |
| PubMedSearch : Young_2013_Genes.Dev_27_459 |
| PubMedID: 23475957 |
| Gene_locus related to this paper: human-ABHD5 , human-LPL |
| Title : Angiopoietin-like protein 4 inhibition of lipoprotein lipase: evidence for reversible complex formation - Lafferty_2013_J.Biol.Chem_288_28524 |
| Author(s) : Lafferty MJ , Bradford KC , Erie DA , Neher SB |
| Ref : Journal of Biological Chemistry , 288 :28524 , 2013 |
| Abstract : |
| PubMedSearch : Lafferty_2013_J.Biol.Chem_288_28524 |
| PubMedID: 23960078 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene - Overgaard_2013_Ann.Clin.Biochem_50_374 |
| Author(s) : Overgaard M , Brasen CL , Svaneby D , Feddersen S , Nybo M |
| Ref : Annals of Clinical Biochemistry , 50 :374 , 2013 |
| Abstract : |
| PubMedSearch : Overgaard_2013_Ann.Clin.Biochem_50_374 |
| PubMedID: 23761384 |
| Gene_locus related to this paper: human-LPL |
| Title : Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells - Davies_2012_J.Lipid.Res_53_2690 |
| Author(s) : Davies BS , Goulbourne CN , Barnes RH, 2nd , Turlo KA , Gin P , Vaughan S , Vaux DJ , Bensadoun A , Beigneux AP , Fong LG , Young SG |
| Ref : J Lipid Res , 53 :2690 , 2012 |
| Abstract : |
| PubMedSearch : Davies_2012_J.Lipid.Res_53_2690 |
| PubMedID: 23008484 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia - Surendran_2012_J.Intern.Med_272_185 |
| Author(s) : Surendran RP , Visser ME , Heemelaar S , Wang J , Peter J , Defesche JC , Kuivenhoven JA , Hosseini M , Peterfy M , Kastelein JJ , Johansen CT , Hegele RA , Stroes ES , Dallinga-Thie GM |
| Ref : J Intern Med , 272 :185 , 2012 |
| Abstract : |
| PubMedSearch : Surendran_2012_J.Intern.Med_272_185 |
| PubMedID: 22239554 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1 - Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980 |
| Author(s) : Voss CV , Davies BS , Tat S , Gin P , Fong LG , Pelletier C , Mottler CD , Bensadoun A , Beigneux AP , Young SG |
| Ref : Proc Natl Acad Sci U S A , 108 :7980 , 2011 |
| Abstract : |
| PubMedSearch : Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980 |
| PubMedID: 21518912 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review - Rahalkar_2009_Can.J.Physiol.Pharmacol_87_151 |
| Author(s) : Rahalkar AR , Giffen F , Har B , Ho J , Morrison KM , Hill J , Wang J , Hegele RA , Joy T |
| Ref : Canadian Journal of Physiology & Pharmacology , 87 :151 , 2009 |
| Abstract : |
| PubMedSearch : Rahalkar_2009_Can.J.Physiol.Pharmacol_87_151 |
| PubMedID: 19295657 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification of a new functional domain in angiopoietin-like 3 (ANGPTL3) and angiopoietin-like 4 (ANGPTL4) involved in binding and inhibition of lipoprotein lipase (LPL) - Lee_2009_J.Biol.Chem_284_13735 |
| Author(s) : Lee EC , Desai U , Gololobov G , Hong S , Feng X , Yu XC , Gay J , Wilganowski N , Gao C , Du LL , Chen J , Hu Y , Zhao S , Kirkpatrick L , Schneider M , Zambrowicz BP , Landes G , Powell DR , Sonnenburg WK |
| Ref : Journal of Biological Chemistry , 284 :13735 , 2009 |
| Abstract : |
| PubMedSearch : Lee_2009_J.Biol.Chem_284_13735 |
| PubMedID: 19318355 |
| Gene_locus related to this paper: human-LPL |
| Title : The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms - Shan_2009_J.Biol.Chem_284_1419 |
| Author(s) : Shan L , Yu XC , Liu Z , Hu Y , Sturgis LT , Miranda ML , Liu Q |
| Ref : Journal of Biological Chemistry , 284 :1419 , 2009 |
| Abstract : |
| PubMedSearch : Shan_2009_J.Biol.Chem_284_1419 |
| PubMedID: 19028676 |
| Gene_locus related to this paper: human-LPL |
| Title : Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study - Izar_2009_Atherosclerosis_204_165 |
| Author(s) : Izar MC , Helfenstein T , Ihara SS , Relvas WG , Santos AO , Fischer SC , Pinto LE , Lopes IE , Pomaro DR , Fonseca MI , Bodanese LC , Moriguchi EH , Saraiva JF , Introcaso L , Souza AD , Scartezini M , Torres KP , Zagury L , Jardim PC , Costa EA , Tacito LH , Forti A , Magalhaes ME , Chacra AR , Bertolami MC , Loures-Vale AA , Barros MA , Xavier HT , Lyra R , Argamanijan D , Guimaraes A , Novazzi JP , Kasinski N , Afiune A , Martinez TL , Santos RD , Nicolau JC , Cesar LA , Povoa RM , Carvalho AC , Han SW , Fonseca FA |
| Ref : Atherosclerosis , 204 :165 , 2009 |
| Abstract : |
| PubMedSearch : Izar_2009_Atherosclerosis_204_165 |
| PubMedID: 18823627 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels - Paglialunga_2009_J.Lipid.Res_50_1109 |
| Author(s) : Paglialunga S , Julien P , Tahiri Y , Cadelis F , Bergeron J , Gaudet D , Cianflone K |
| Ref : J Lipid Res , 50 :1109 , 2009 |
| Abstract : |
| PubMedSearch : Paglialunga_2009_J.Lipid.Res_50_1109 |
| PubMedID: 19237736 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygosity of novel missense mutations (Ser45 --> Gly, Cys278 --> Arg) in the lipoprotein lipase gene in a newborn Korean infant - |
| Author(s) : Lee J , Ko K , Ryu S , Lee K , Son C |
| Ref : Clinica Chimica Acta , 387 :172 , 2008 |
| PubMedID: 17884031 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees - Hu_2007_J.Lipid.Res_48_1681 |
| Author(s) : Hu Y , Ren Y , Luo RZ , Mao X , Li X , Cao X , Guan L , Chen X , Li J , Long Y , Zhang X , Tian H |
| Ref : J Lipid Res , 48 :1681 , 2007 |
| Abstract : |
| PubMedSearch : Hu_2007_J.Lipid.Res_48_1681 |
| PubMedID: 17476032 |
| Gene_locus related to this paper: human-LPL |
| Title : Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650) - Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| Author(s) : Wang J , Cao H , Ban MR , Kennedy BA , Zhu S , Anand S , Yusuf S , Pollex RL , Hegele RA |
| Ref : Arterioscler Thromb Vasc Biol , 27 :2450 , 2007 |
| Abstract : |
| PubMedSearch : Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| PubMedID: 17717288 |
| Gene_locus related to this paper: human-LPL |
| Title : A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis - Ebara_2007_Clin.Chim.Acta_386_100 |
| Author(s) : Ebara T , Endo Y , Yoshiike S , Tsuji M , Taguchi S , Murase T , Okubo M |
| Ref : Clinica Chimica Acta , 386 :100 , 2007 |
| Abstract : |
| PubMedSearch : Ebara_2007_Clin.Chim.Acta_386_100 |
| PubMedID: 17854791 |
| Gene_locus related to this paper: human-LPL |
| Title : Subsets of SNPs define rare genotype classes that predict ischemic heart disease - Frikke-Schmidt_2007_Hum.Genet_120_865 |
| Author(s) : Frikke-Schmidt R , Sing CF , Nordestgaard BG , Steffensen R , Tybjaerg-Hansen A |
| Ref : Hum Genet , 120 :865 , 2007 |
| Abstract : |
| PubMedSearch : Frikke-Schmidt_2007_Hum.Genet_120_865 |
| PubMedID: 17006673 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis - Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| Author(s) : Yu XH , Zhao TQ , Wang L , Liu ZP , Zhang CM , Chen R , Li L , Liu G , Hu WC |
| Ref : Biochemical & Biophysical Research Communications , 341 :82 , 2006 |
| Abstract : |
| PubMedSearch : Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| PubMedID: 16431216 |
| Gene_locus related to this paper: human-LPL |
| Title : Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome - Truninger_2006_Pancreas_32_215 |
| Author(s) : Truninger K , Schmid PA , Hoffmann MM , Bertschinger P , Ammann RW |
| Ref : Pancreas , 32 :215 , 2006 |
| Abstract : |
| PubMedSearch : Truninger_2006_Pancreas_32_215 |
| PubMedID: 16552344 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia - Chan_2006_Clin.Chim.Acta_368_120 |
| Author(s) : Chan AO , But WM , Lau GT , Tse WY , Shek CC |
| Ref : Clinica Chimica Acta , 368 :120 , 2006 |
| Abstract : |
| PubMedSearch : Chan_2006_Clin.Chim.Acta_368_120 |
| PubMedID: 16460718 |
| Gene_locus related to this paper: human-LPL |
| Title : Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis - Kawashiri_2005_J.Clin.Endocrinol.Metab_90_6541 |
| Author(s) : Kawashiri MA , Higashikata T , Mizuno M , Takata M , Katsuda S , Miwa K , Nozue T , Nohara A , Inazu A , Kobayashi J , Koizumi J , Mabuchi H |
| Ref : J Clinical Endocrinology Metab , 90 :6541 , 2005 |
| Abstract : |
| PubMedSearch : Kawashiri_2005_J.Clin.Endocrinol.Metab_90_6541 |
| PubMedID: 16174715 |
| Gene_locus related to this paper: human-LPL |
| Title : Enhanced bridging function and augmented monocyte adhesion by lipoprotein lipase N9: insights into increased risk of coronary artery disease in N9 carriers - Fisher_2003_Atherosclerosis_166_243 |
| Author(s) : Fisher RM , Benhizia F , Schreiber R , Makoveichuk E , Putt W , Al-Haideri M , Deckelbaum RJ , Olivecrona G , Humphries SE , Talmud PJ |
| Ref : Atherosclerosis , 166 :243 , 2003 |
| Abstract : |
| PubMedSearch : Fisher_2003_Atherosclerosis_166_243 |
| PubMedID: 12535736 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis - Saika_2003_Eur.J.Clin.Invest_33_216 |
| Author(s) : Saika Y , Sakai N , Takahashi M , Maruyama T , Kihara S , Ouchi N , Ishigami M , Hiraoka H , Nakamura T , Yamashita S , Matsuzawa Y |
| Ref : European Journal of Clinical Investigation , 33 :216 , 2003 |
| Abstract : |
| PubMedSearch : Saika_2003_Eur.J.Clin.Invest_33_216 |
| PubMedID: 12641539 |
| Gene_locus related to this paper: human-LPL |
| Title : Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia - Chan_2002_Hum.Mutat_20_232 |
| Author(s) : Chan LY , Lam CW , Mak YT , Tomlinson B , Tsang MW , Baum L , Masarei JR , Pang CP |
| Ref : Hum Mutat , 20 :232 , 2002 |
| Abstract : |
| PubMedSearch : Chan_2002_Hum.Mutat_20_232 |
| PubMedID: 12204001 |
| Gene_locus related to this paper: human-LPL |
| Title : Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene - Peterson_2002_J.Lipid.Res_43_398 |
| Author(s) : Peterson J , Ayyobi AF , Ma Y , Henderson H , Reina M , Deeb SS , Santamarina-Fojo S , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 43 :398 , 2002 |
| Abstract : |
| PubMedSearch : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedID: 11893776 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase: genetics, lipid uptake, and regulation - Merkel_2002_J.Lipid.Res_43_1997 |
| Author(s) : Merkel M , Eckel RH , Goldberg IJ |
| Ref : J Lipid Res , 43 :1997 , 2002 |
| Abstract : |
| PubMedSearch : Merkel_2002_J.Lipid.Res_43_1997 |
| PubMedID: 12454259 |
| Gene_locus related to this paper: human-LPL |
| Title : The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease - Clee_2001_Clin.Genet_60_293 |
| Author(s) : Clee SM , Loubser O , Collins J , Kastelein JJ , Hayden MR |
| Ref : Clin Genet , 60 :293 , 2001 |
| Abstract : |
| PubMedSearch : Clee_2001_Clin.Genet_60_293 |
| PubMedID: 11683775 |
| Gene_locus related to this paper: human-LPL |
| Title : A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide - Yoshida_2000_J.Atheroscler.Thromb_7_45 |
| Author(s) : Yoshida T , Gotoda T , Okubo M , Iizuka Y , Ishibashi S , Kojima T , Murakami T , Murase T , Yamada N |
| Ref : J Atheroscler Thromb , 7 :45 , 2000 |
| Abstract : |
| PubMedSearch : Yoshida_2000_J.Atheroscler.Thromb_7_45 |
| PubMedID: 11425044 |
| Gene_locus related to this paper: human-LPL |
| Title : Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)) - Bertolini_2000_Clin.Genet_57_140 |
| Author(s) : Bertolini S , Simone ML , Pes GM , Ghisellini M , Rolleri M , Bellocchio A , Elicio N , Masturzo P , Calandra S |
| Ref : Clin Genet , 57 :140 , 2000 |
| Abstract : |
| PubMedSearch : Bertolini_2000_Clin.Genet_57_140 |
| PubMedID: 10735636 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia - Kobayashi_1999_Clin.Chim.Acta_285_173 |
| Author(s) : Kobayashi J , Nagashima I , Taira K , Hikita M , Tamura K , Bujo H , Morisaki N , Saito Y |
| Ref : Clinica Chimica Acta , 285 :173 , 1999 |
| Abstract : |
| PubMedSearch : Kobayashi_1999_Clin.Chim.Acta_285_173 |
| PubMedID: 10481934 |
| Gene_locus related to this paper: human-LPL |
| Title : Common mutations of the lipoprotein lipase gene and their clinical significance - Gehrisch_1999_Curr.Atheroscler.Rep_1_70 |
| Author(s) : Gehrisch S |
| Ref : Curr Atheroscler Rep , 1 :70 , 1999 |
| Abstract : |
| PubMedSearch : Gehrisch_1999_Curr.Atheroscler.Rep_1_70 |
| PubMedID: 11122694 |
| Gene_locus related to this paper: human-LPL |
| Title : Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins - Boer_1999_Clin.Genet_56_158 |
| Author(s) : Boer JM , Kuivenhoven JA , Feskens EJ , Schouten EG , Havekes LM , Seidell JC , Kastelein JJ , Kromhout D |
| Ref : Clin Genet , 56 :158 , 1999 |
| Abstract : |
| PubMedSearch : Boer_1999_Clin.Genet_56_158 |
| PubMedID: 10517255 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online - Evans_1998_Hum.Mutat_12_217 |
| Author(s) : Evans D , Wendt D , Ahle S , Guerra A , Beisiegel U |
| Ref : Hum Mutat , 12 :217 , 1998 |
| Abstract : |
| PubMedSearch : Evans_1998_Hum.Mutat_12_217 |
| PubMedID: 10660334 |
| Gene_locus related to this paper: human-LPL |
| Title : DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene - Nickerson_1998_Nat.Genet_19_233 |
| Author(s) : Nickerson DA , Taylor SL , Weiss KM , Clark AG , Hutchinson RG , Stengard J , Salomaa V , Vartiainen E , Boerwinkle E , Sing CF |
| Ref : Nat Genet , 19 :233 , 1998 |
| Abstract : |
| PubMedSearch : Nickerson_1998_Nat.Genet_19_233 |
| PubMedID: 9662394 |
| Gene_locus related to this paper: human-LPL |
| Title : Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase - Clark_1998_Am.J.Hum.Genet_63_595 |
| Author(s) : Clark AG , Weiss KM , Nickerson DA , Taylor SL , Buchanan A , Stengard J , Salomaa V , Vartiainen E , Perola M , Boerwinkle E , Sing CF |
| Ref : American Journal of Human Genetics , 63 :595 , 1998 |
| Abstract : |
| PubMedSearch : Clark_1998_Am.J.Hum.Genet_63_595 |
| PubMedID: 9683608 |
| Gene_locus related to this paper: human-LPL |
| Title : Acute hypertriglyceridaemic pancreatitis in a pregnant Indian: a new lipoprotein lipase gene mutation - |
| Author(s) : Murugasu CG , Armstrong G , Creedon G , Cavanna JS , Galton DJ , Tomkin GH |
| Ref : J R Soc Med , 91 :205 , 1998 |
| PubMedID: 9659309 |
| Gene_locus related to this paper: human-LPL |
| Title : A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease - Wittrup_1997_J.Clin.Invest_99_1606 |
| Author(s) : Wittrup HH , Tybjaerg-Hansen A , Abildgaard S , Steffensen R , Schnohr P , Nordestgaard BG |
| Ref : J Clinical Investigation , 99 :1606 , 1997 |
| Abstract : |
| PubMedSearch : Wittrup_1997_J.Clin.Invest_99_1606 |
| PubMedID: 9120004 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations at the lipoprotein lipase gene locus in subjects with diabetes mellitus, obesity and lipaemia - Zhang_1997_Clin.Sci.(Lond)_93_335 |
| Author(s) : Zhang Q , Cavallero E , Hoffmann MM , Cavanna J , Kay A , Charles A , Braschi S , Marz W , Perlemuter L , Jacotot B , Galton DJ |
| Ref : Clinical Science (Lond) , 93 :335 , 1997 |
| Abstract : |
| PubMedSearch : Zhang_1997_Clin.Sci.(Lond)_93_335 |
| PubMedID: 9404225 |
| Gene_locus related to this paper: human-LPL |
| Title : A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry - Foubert_1997_Hum.Mutat_10_179 |
| Author(s) : Foubert L , Bruin T , De Gennes JL , Ehrenborg E , Furioli J , Kastelein J , Benlian P , Hayden M |
| Ref : Hum Mutat , 10 :179 , 1997 |
| Abstract : |
| PubMedSearch : Foubert_1997_Hum.Mutat_10_179 |
| PubMedID: 9298816 |
| Gene_locus related to this paper: human-LPL |
| Title : Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library - Suzuki_1997_Gene_200_149 |
| Author(s) : Suzuki Y , Yoshitomo-Nakagawa K , Maruyama K , Suyama A , Sugano S |
| Ref : Gene , 200 :149 , 1997 |
| Abstract : |
| PubMedSearch : Suzuki_1997_Gene_200_149 |
| PubMedID: 9373149 |
| Gene_locus related to this paper: human-ACOT2 , human-LIPF , human-LPL , human-PLA1A , human-PLA2G15 |
| Title : Molecular pathobiology of the human lipoprotein lipase gene - Murthy_1996_Pharmacol.Ther_70_101 |
| Author(s) : Murthy V , Julien P , Gagne C |
| Ref : Pharmacol Ther , 70 :101 , 1996 |
| Abstract : |
| PubMedSearch : Murthy_1996_Pharmacol.Ther_70_101 |
| PubMedID: 8843465 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia - |
| Author(s) : Wiebusch H , Funke H , Bruin T , Bucher H , von Eckardstein A , Kastelein JJ , Assmann G |
| Ref : Hum Mutat , 8 :381 , 1996 |
| PubMedID: 8956048 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia - de Bruin_1996_Eur.J.Clin.Invest_26_631 |
| Author(s) : de Bruin TW , Mailly F , van Barlingen HH , Fisher R , Castro Cabezas M , Talmud P , Dallinga-Thie GM , Humphries SE |
| Ref : European Journal of Clinical Investigation , 26 :631 , 1996 |
| Abstract : |
| PubMedSearch : de Bruin_1996_Eur.J.Clin.Invest_26_631 |
| PubMedID: 8872057 |
| Gene_locus related to this paper: human-LPL |
| Title : The mutation Gly142-->\;Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes - Busca_1996_J.Biol.Chem_271_2139 |
| Author(s) : Busca R , Martinez M , Vilella E , Pognonec P , Deeb S , Auwerx J , Reina M , Vilaro S |
| Ref : Journal of Biological Chemistry , 271 :2139 , 1996 |
| Abstract : |
| PubMedSearch : Busca_1996_J.Biol.Chem_271_2139 |
| PubMedID: 8567671 |
| Gene_locus related to this paper: human-LPL |
| Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848 |
| Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M |
| Ref : N Engl J Med , 335 :848 , 1996 |
| Abstract : |
| PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848 |
| PubMedID: 8778602 |
| Gene_locus related to this paper: human-LPL |
| Title : Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency - Benlian_1996_Am.J.Hum.Genet_59_431 |
| Author(s) : Benlian P , Foubert L , Gagne E , Bernard L , De Gennes JL , Langlois S , Robinson W , Hayden M |
| Ref : American Journal of Human Genetics , 59 :431 , 1996 |
| Abstract : |
| PubMedSearch : Benlian_1996_Am.J.Hum.Genet_59_431 |
| PubMedID: 8755931 |
| Gene_locus related to this paper: human-LPL |
| Title : A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis - Reymer_1995_Nat.Genet_10_28 |
| Author(s) : Reymer PW , Gagne E , Groenemeyer BE , Zhang H , Forsyth I , Jansen H , Seidell JC , Kromhout D , Lie KE , Kastelein J , et al. |
| Ref : Nat Genet , 10 :28 , 1995 |
| Abstract : |
| PubMedSearch : Reymer_1995_Nat.Genet_10_28 |
| PubMedID: 7647785 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene - Holzl_1994_J.Lipid.Res_35_2161 |
| Author(s) : Holzl B , Huber R , Paulweber B , Patsch JR , Sandhofer F |
| Ref : J Lipid Res , 35 :2161 , 1994 |
| Abstract : |
| PubMedSearch : Holzl_1994_J.Lipid.Res_35_2161 |
| PubMedID: 7897314 |
| Gene_locus related to this paper: human-LPL |
| Title : A new Italian case of lipoprotein lipase deficiency: a Leu365- >\; Val change resulting in loss of enzyme activity - Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| Author(s) : Pepe G , Chimienti G , Resta F , Di Perna V , Tarricone C , Lovecchio M , Colacicco AM , Capurso A |
| Ref : Biochemical & Biophysical Research Communications , 199 :570 , 1994 |
| Abstract : |
| PubMedSearch : Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| PubMedID: 8135797 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutagenesis in four candidate heparin binding regions (residues 279-282, 291-304, 390-393, and 439-448) and identification of residues affecting heparin binding of human lipoprotein lipase - Ma_1994_J.Lipid.Res_35_2049 |
| Author(s) : Ma Y , Henderson HE , Liu MS , Zhang H , Forsythe IJ , Clarke-Lewis I , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 35 :2049 , 1994 |
| Abstract : |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_2049 |
| PubMedID: 7868983 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia - Previato_1994_J.Lipid.Res_35_1552 |
| Author(s) : Previato L , Guardamagna O , Dugi KA , Ronan R , Talley GD , Santamarina-Fojo S , Brewer HB, Jr. |
| Ref : J Lipid Res , 35 :1552 , 1994 |
| Abstract : |
| PubMedSearch : Previato_1994_J.Lipid.Res_35_1552 |
| PubMedID: 7806969 |
| Gene_locus related to this paper: human-LPL |
| Title : Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides - Maruyama_1994_Gene_138_171 |
| Author(s) : Maruyama K , Sugano S |
| Ref : Gene , 138 :171 , 1994 |
| Abstract : |
| PubMedSearch : Maruyama_1994_Gene_138_171 |
| PubMedID: 8125298 |
| Gene_locus related to this paper: human-ACOT2 , human-LIPF , human-LPL , human-PLA1A , human-PLA2G15 |
| Title : A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop\/TGC972-->TGA\; LPLobama) in a patient with primary type IV hyperlipoproteinemia - Takagi_1994_J.Lipid.Res_35_2008 |
| Author(s) : Takagi A , Ikeda Y , Mori A , Tsutsumi Z , Oida K , Nakai T , Yamamoto A |
| Ref : J Lipid Res , 35 :2008 , 1994 |
| Abstract : |
| PubMedSearch : Takagi_1994_J.Lipid.Res_35_2008 |
| PubMedID: 7868979 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia - Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046 |
| Author(s) : Kobayashi J , Sasaki N , Tashiro J , Inadera H , Saito Y , Yoshida S |
| Ref : Biochemical & Biophysical Research Communications , 191 :1046 , 1993 |
| Abstract : |
| PubMedSearch : Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046 |
| PubMedID: 8096693 |
| Gene_locus related to this paper: human-LPL |
| Title : Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene - Ma_1993_J.Clin.Invest_91_1953 |
| Author(s) : Ma Y , Liu MS , Ginzinger D , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 91 :1953 , 1993 |
| Abstract : |
| PubMedSearch : Ma_1993_J.Clin.Invest_91_1953 |
| PubMedID: 8486765 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes - Wilson_1993_J.Clin.Invest_92_203 |
| Author(s) : Wilson DE , Hata A , Kwong LK , Lingam A , Shuhua J , Ridinger DN , Yeager C , Kaltenborn KC , Iverius PH , Lalouel JM |
| Ref : J Clinical Investigation , 92 :203 , 1993 |
| Abstract : |
| PubMedSearch : Wilson_1993_J.Clin.Invest_92_203 |
| PubMedID: 8325986 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia) - Haubenwallner_1993_Genomics_18_392 |
| Author(s) : Haubenwallner S , Horl G , Shachter NS , Presta E , Fried SK , Hofler G , Kostner GM , Breslow JL , Zechner R |
| Ref : Genomics , 18 :392 , 1993 |
| Abstract : |
| PubMedSearch : Haubenwallner_1993_Genomics_18_392 |
| PubMedID: 8288243 |
| Gene_locus related to this paper: human-LPL |
| Title : Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase - Bruin_1993_J.Lipid.Res_34_2109 |
| Author(s) : Bruin T , Tuzgol S , Van Diermen DE , Hoogerbrugge-van der Linden N , Brunzell JD , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 34 :2109 , 1993 |
| Abstract : |
| PubMedSearch : Bruin_1993_J.Lipid.Res_34_2109 |
| PubMedID: 8301230 |
| Gene_locus related to this paper: human-LPL |
| Title : Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene - Emi_1993_J.Biol.Chem_268_2120 |
| Author(s) : Emi M , Asaoka H , Matsumoto A , Itakura H , Kurihara Y , Wada Y , Kanamori H , Yazaki Y , Takahashi E , Lepert M , Jean-Marc Lalouel JM , Kodama T , Mukai T |
| Ref : Journal of Biological Chemistry , 268 :2120 , 1993 |
| Abstract : |
| PubMedSearch : Emi_1993_J.Biol.Chem_268_2120 |
| PubMedID: 8093617 |
| Gene_locus related to this paper: human-LPL |
| Title : Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion - Gotoda_1992_J.Lipid.Res_33_1067 |
| Author(s) : Gotoda T , Yamada N , Murase T , Shimano H , Shimada M , Harada K , Kawamura M , Kozaki K , Yazaki Y |
| Ref : J Lipid Res , 33 :1067 , 1992 |
| Abstract : |
| PubMedSearch : Gotoda_1992_J.Lipid.Res_33_1067 |
| PubMedID: 1358995 |
| Gene_locus related to this paper: human-LPL |
| Title : Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis - Ma_1992_J.Biol.Chem_267_1918 |
| Author(s) : Ma YH , Bruin T , Tuzgol S , Wilson BI , Roederer G , Liu MS , Davignon J , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : Journal of Biological Chemistry , 267 :1918 , 1992 |
| Abstract : |
| PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedID: 1730727 |
| Gene_locus related to this paper: human-LPL |
| Title : Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241 - Emmerich_1992_J.Biol.Chem_267_4161 |
| Author(s) : Emmerich J , Beg OU , Peterson J , Previato L , Brunzell JD , Brewer HB, Jr. , Santamarina-Fojo S |
| Ref : Journal of Biological Chemistry , 267 :4161 , 1992 |
| Abstract : |
| PubMedSearch : Emmerich_1992_J.Biol.Chem_267_4161 |
| PubMedID: 1371284 |
| Gene_locus related to this paper: human-LPL |
| Title : The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence - Chuat_1992_Gene_110_257 |
| Author(s) : Chuat JC , Raisonnier A , Etienne J , Galibert F |
| Ref : Gene , 110 :257 , 1992 |
| Abstract : |
| PubMedSearch : Chuat_1992_Gene_110_257 |
| PubMedID: 1537564 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia - Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| Author(s) : Ishimura-Oka K , Faustinella F , Kihara S , Smith LC , Oka K , Chan L |
| Ref : American Journal of Human Genetics , 50 :1275 , 1992 |
| Abstract : |
| PubMedSearch : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| PubMedID: 1598907 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency - Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| Author(s) : Ishimura-Oka K , Semenkovich CF , Faustinella F , Goldberg IJ , Shachter N , Smith LC , Coleman T , Hide WA , Brown WV , Oka K , et al. |
| Ref : J Lipid Res , 33 :745 , 1992 |
| Abstract : |
| PubMedSearch : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedID: 1619366 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649 |
| Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR |
| Ref : Genomics , 13 :649 , 1992 |
| Abstract : |
| PubMedSearch : Ma_1992_Genomics_13_649 |
| PubMedID: 1639392 |
| Gene_locus related to this paper: human-LPL |
| Title : Two novel human pancreatic lipase related proteins, hPLRP1 and hPLRP2. Differences in colipase dependence and in lipase activity - Giller_1992_J.Biol.Chem_267_16509 |
| Author(s) : Giller T , Buchwald P , Blum-Kaelin D , Hunziker W |
| Ref : Journal of Biological Chemistry , 267 :16509 , 1992 |
| Abstract : |
| PubMedSearch : Giller_1992_J.Biol.Chem_267_16509 |
| PubMedID: 1379598 |
| Gene_locus related to this paper: human-LPL , human-PNLIPRP1 , human-PNLIPRP2 |
| Title : A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity - Bruin_1992_Eur.J.Biochem_208_267 |
| Author(s) : Bruin T , Kastelein JJ , Van Diermen DE , Ma Y , Henderson HE , Stuyt PM , Stalenhoef AF , Sturk A , Brunzell JD , Hayden MR |
| Ref : European Journal of Biochemistry , 208 :267 , 1992 |
| Abstract : |
| PubMedSearch : Bruin_1992_Eur.J.Biochem_208_267 |
| PubMedID: 1521525 |
| Gene_locus related to this paper: human-LPL |
| Title : Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization - Hata_1992_J.Biol.Chem_267_20132 |
| Author(s) : Hata A , Ridinger DN , Sutherland SD , Emi M , Kwong LK , Shuhua J , Lubbers A , Guy-Grand B , Basdevant A , Iverius PH , et al. |
| Ref : Journal of Biological Chemistry , 267 :20132 , 1992 |
| Abstract : |
| PubMedSearch : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedID: 1400331 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes - Reina_1992_J.Lipid.Res_33_1823 |
| Author(s) : Reina M , Brunzell JD , Deeb SS |
| Ref : J Lipid Res , 33 :1823 , 1992 |
| Abstract : |
| PubMedSearch : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedID: 1479292 |
| Gene_locus related to this paper: human-LPL |
| Title : A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family - Chimienti_1992_Biochem.Biophys.Res.Commun_187_620 |
| Author(s) : Chimienti G , Capurso A , Resta F , Pepe G |
| Ref : Biochemical & Biophysical Research Communications , 187 :620 , 1992 |
| Abstract : |
| PubMedSearch : Chimienti_1992_Biochem.Biophys.Res.Commun_187_620 |
| PubMedID: 1530621 |
| Gene_locus related to this paper: human-LPL |
| Title : Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec - Bergeron_1992_Clin.Genet_41_206 |
| Author(s) : Bergeron J , Normand T , Bharucha A , Ven Murthy MR , Julien P , Gagne C , Dionne C , De Braekeleer M , Brun D , Hayden MR , Luplen PJ |
| Ref : Clin Genet , 41 :206 , 1992 |
| Abstract : |
| PubMedSearch : Bergeron_1992_Clin.Genet_41_206 |
| PubMedID: 1576758 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene - Ameis_1991_J.Clin.Invest_87_1165 |
| Author(s) : Ameis D , Kobayashi J , Davis RC , Ben-Zeev O , Malloy MJ , Kane JP , Lee G , Wong H , Havel RJ , Schotz MC |
| Ref : J Clinical Investigation , 87 :1165 , 1991 |
| Abstract : |
| PubMedSearch : Ameis_1991_J.Clin.Invest_87_1165 |
| PubMedID: 2010533 |
| Gene_locus related to this paper: human-LPL |
| Title : A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians - Ma_1991_N.Engl.J.Med_324_1761 |
| Author(s) : Ma Y , Henderson HE , Murthy V , Roederer G , Monsalve MV , Clarke LA , Normand T , Julien P , Gagne C , Lambert M , et al. |
| Ref : N Engl J Med , 324 :1761 , 1991 |
| Abstract : |
| PubMedSearch : Ma_1991_N.Engl.J.Med_324_1761 |
| PubMedID: 2038366 |
| Gene_locus related to this paper: human-LPL |
| Title : Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin - Henderson_1991_J.Clin.Invest_87_2005 |
| Author(s) : Henderson HE , Ma Y , Hassan MF , Monsalve MV , Marais AD , Winkler F , Gubernator K , Peterson J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 87 :2005 , 1991 |
| Abstract : |
| PubMedSearch : Henderson_1991_J.Clin.Invest_87_2005 |
| PubMedID: 1674945 |
| Gene_locus related to this paper: human-LPL |
| Title : Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family - Faustinella_1991_J.Biol.Chem_266_14418 |
| Author(s) : Faustinella F , Chang A , Van Biervliet JP , Rosseneu M , Vinaimont N , Smith LC , Chen SH , Chan L |
| Ref : Journal of Biological Chemistry , 266 :14418 , 1991 |
| Abstract : |
| PubMedSearch : Faustinella_1991_J.Biol.Chem_266_14418 |
| PubMedID: 1907278 |
| Gene_locus related to this paper: human-LPL |
| Title : Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency - Gotoda_1991_J.Clin.Invest_88_1856 |
| Author(s) : Gotoda T , Yamada N , Kawamura M , Kozaki K , Mori N , Ishibashi S , Shimano H , Takaku F , Yazaki Y , Furuichi Y , et al. |
| Ref : J Clinical Investigation , 88 :1856 , 1991 |
| Abstract : |
| PubMedSearch : Gotoda_1991_J.Clin.Invest_88_1856 |
| PubMedID: 1752947 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome - Dichek_1991_J.Biol.Chem_266_473 |
| Author(s) : Dichek HL , Fojo SS , Beg OU , Skarlatos SI , Brunzell JD , Cutler GB, Jr. , Brewer HB, Jr. |
| Ref : Journal of Biological Chemistry , 266 :473 , 1991 |
| Abstract : |
| PubMedSearch : Dichek_1991_J.Biol.Chem_266_473 |
| PubMedID: 1702428 |
| Gene_locus related to this paper: human-LPL |
| Title : Founder effect in familial hyperchylomicronemia among French Canadians of Quebec - De Braekeleer_1991_Hum.Hered_41_168 |
| Author(s) : De Braekeleer M , Dionne C , Gagne C , Julien P , Brun D , Ven Murthy MR , Lupien PJ |
| Ref : Hum Hered , 41 :168 , 1991 |
| Abstract : |
| PubMedSearch : De Braekeleer_1991_Hum.Hered_41_168 |
| PubMedID: 1937490 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity - Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474 |
| Author(s) : Beg OU , Meng MS , Skarlatos SI , Previato L , Brunzell JD , Brewer HB, Jr. , Fojo SS |
| Ref : Proc Natl Acad Sci U S A , 87 :3474 , 1990 |
| Abstract : |
| PubMedSearch : Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474 |
| PubMedID: 2110364 |
| Gene_locus related to this paper: human-LPL |
| Title : Rapid and simple isolation procedure for lipoprotein lipase from human milk - Zechner_1990_Biochim.Biophys.Acta_1044_20 |
| Author(s) : Zechner R |
| Ref : Biochimica & Biophysica Acta , 1044 :20 , 1990 |
| Abstract : |
| PubMedSearch : Zechner_1990_Biochim.Biophys.Acta_1044_20 |
| PubMedID: 2340307 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries - Monsalve_1990_J.Clin.Invest_86_728 |
| Author(s) : Monsalve MV , Henderson H , Roederer G , Julien P , Deeb S , Kastelein JJ , Peritz L , Devlin R , Bruin T , Murthy MR , et al. |
| Ref : J Clinical Investigation , 86 :728 , 1990 |
| Abstract : |
| PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728 |
| PubMedID: 1975597 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene - Hata_1990_Am.J.Hum.Genet_47_721 |
| Author(s) : Hata A , Emi M , Luc G , Basdevant A , Gambert P , Iverius PH , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :721 , 1990 |
| Abstract : |
| PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedID: 2121025 |
| Gene_locus related to this paper: human-LPL |
| Title : In vitro expression and site-specific mutagenesis of the cloned human lipoprotein lipase gene. Potential N-linked glycosylation site asparagine 43 is important for both enzyme activity and secretion - Semenkovich_1990_J.Biol.Chem_265_5429 |
| Author(s) : Semenkovich CF , Luo CC , Nakanishi MK , Chen SH , Smith LC , Chan L |
| Ref : Journal of Biological Chemistry , 265 :5429 , 1990 |
| Abstract : |
| PubMedSearch : Semenkovich_1990_J.Biol.Chem_265_5429 |
| PubMedID: 2318821 |
| Gene_locus related to this paper: human-LPL |
| Title : Structure and polymorphic map of human lipoprotein lipase gene - Oka_1990_Biochim.Biophys.Acta_1049_21 |
| Author(s) : Oka K , Tkalcevic GT , Nakano T , Tucker H , Ishimura-Oka K , Brown WV |
| Ref : Biochimica & Biophysica Acta , 1049 :21 , 1990 |
| Abstract : |
| PubMedSearch : Oka_1990_Biochim.Biophys.Acta_1049_21 |
| PubMedID: 1972631 |
| Gene_locus related to this paper: human-LPL |
| Title : Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency - Emi_1990_J.Biol.Chem_265_5910 |
| Author(s) : Emi M , Wilson DE , Iverius PH , Wu L , Hata A , Hegele R , Williams RR , Lalouel JM |
| Ref : Journal of Biological Chemistry , 265 :5910 , 1990 |
| Abstract : |
| PubMedSearch : Emi_1990_J.Biol.Chem_265_5910 |
| PubMedID: 1969408 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene - Emi_1990_Am.J.Hum.Genet_47_107 |
| Author(s) : Emi M , Hata A , Robertson M , Iverius PH , Hegele R , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :107 , 1990 |
| Abstract : |
| PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedID: 2349938 |
| Gene_locus related to this paper: human-LPL |
| Title : Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency - Devlin_1990_Am.J.Hum.Genet_46_112 |
| Author(s) : Devlin RH , Deeb S , Brunzell J , Hayden MR |
| Ref : American Journal of Human Genetics , 46 :112 , 1990 |
| Abstract : |
| PubMedSearch : Devlin_1990_Am.J.Hum.Genet_46_112 |
| PubMedID: 2294743 |
| Gene_locus related to this paper: human-LPL |
| Title : Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency - Henderson_1990_Mol.Biol.Med_7_511 |
| Author(s) : Henderson HE , Devlin R , Peterson J , Brunzell JD , Hayden MR |
| Ref : Mol Biol Med , 7 :511 , 1990 |
| Abstract : |
| PubMedSearch : Henderson_1990_Mol.Biol.Med_7_511 |
| PubMedID: 2077351 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase with a defect in lipid interface recognition in a case with type I hyperlipidaemia - Kobayashi_1989_Eur.J.Clin.Invest_19_424 |
| Author(s) : Kobayashi J , Shirai K , Saito Y , Yoshida S |
| Ref : European Journal of Clinical Investigation , 19 :424 , 1989 |
| Abstract : |
| PubMedSearch : Kobayashi_1989_Eur.J.Clin.Invest_19_424 |
| PubMedID: 2511018 |
| Gene_locus related to this paper: human-LPL |
| Title : Structure of the human lipoprotein lipase gene - Deeb_1989_Biochemistry_28_4131 |
| Author(s) : Deeb SS , Peng RL |
| Ref : Biochemistry , 28 :4131 , 1989 |
| Abstract : |
| PubMedSearch : Deeb_1989_Biochemistry_28_4131 |
| PubMedID: 2765475 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular cloning and sequence of a cDNA coding for bovine lipoprotein lipase - Senda_1987_Proc.Natl.Acad.Sci.U.S.A_84_4369 |
| Author(s) : Senda M , Oka K , Brown WV , Qasba PK , Furuichi Y |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 84 :4369 , 1987 |
| Abstract : |
| PubMedSearch : Senda_1987_Proc.Natl.Acad.Sci.U.S.A_84_4369 |
| PubMedID: 2885834 |
| Gene_locus related to this paper: bovin-lipli , human-LPL |
| Title : Human lipoprotein lipase complementary DNA sequence - Wion_1987_Science_235_1638 |
| Author(s) : Wion KL , Kirchgessner TG , Lusis AJ , Schotz MC , Lawn RM |
| Ref : Science , 235 :1638 , 1987 |
| Abstract : |
| PubMedSearch : Wion_1987_Science_235_1638 |
| PubMedID: 3823907 |
| Gene_locus related to this paper: human-LPL |
| Title : Solvent isotope effects for lipoprotein lipase catalyzed hydrolysis of water-soluble p-nitrophenyl esters - Quinn_1985_Biochemistry_24_3144 |
| Author(s) : Quinn DM |
| Ref : Biochemistry , 24 :3144 , 1985 |
| Abstract : |
| PubMedSearch : Quinn_1985_Biochemistry_24_3144 |
| PubMedID: 4027237 |
| Gene_locus related to this paper: human-LPL |
| Title : Action of lipoprotein lipase on mixed triacylglycerol\/phosphatidylcholine monolayers. Activation by apolipoprotein C-II - |
| Author(s) : Vainio P , Virtanen JA , Kinnunen PK , Gotto AM, Jr. , Sparrow JT , Pattus F , Bougis P , Verger R |
| Ref : Journal of Biological Chemistry , 258 :5477 , 1983 |
| PubMedID: 6853529 |
| Gene_locus related to this paper: human-LPL |
| Title : Action of lipoprotein lipase on phospholipid monolayers. Activation by apolipoprotein C-II - |
| Author(s) : Vainio P , Virtanen JA , Kinnunen PK , Voyta JC , Smith LC , Gotto AM, Jr. , Sparrow JT , Pattus F , Verger R |
| Ref : Biochemistry , 22 :2270 , 1983 |
| PubMedID: 6860664 |
| Gene_locus related to this paper: human-LPL |
| Title : Interaction of synthetic N-5-dimethylaminonaphthalene-1-sulfonyl-apolipoprotein C-II peptides with lipoprotein lipase - Voyta_1983_J.Biol.Chem_258_2934 |
| Author(s) : Voyta JC , Vainio P , Kinnunen PK , Gotto AM, Jr. , Sparrow JT , Smith LC |
| Ref : Journal of Biological Chemistry , 258 :2934 , 1983 |
| Abstract : |
| PubMedSearch : Voyta_1983_J.Biol.Chem_258_2934 |
| PubMedID: 6826547 |
| Gene_locus related to this paper: human-LPL |
| Title : Inhibition of lipoprotein lipase by benzene boronic acid. Effect of apolipoprotein C-II - Vainio_1982_Biochim.Biophys.Acta_711_386 |
| Author(s) : Vainio P , Virtanen JA , Kinnunen PK |
| Ref : Biochimica & Biophysica Acta , 711 :386 , 1982 |
| Abstract : |
| PubMedSearch : Vainio_1982_Biochim.Biophys.Acta_711_386 |
| PubMedID: 7104374 |
| Gene_locus related to this paper: human-LPL |