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 E

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 (162)

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
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
PubMedID: 38561841
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
PubMedID: 38530959
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
PubMedID: 38625948
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
PubMedID: 37094117
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
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
PubMedID: 37954769
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
PubMedID: 37036527
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
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
PubMedID: 37858495
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
PubMedID: 36879129
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
PubMedID: 37550668
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
PubMedID: 36870522
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
PubMedID: 36879887
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
PubMedID: 36878607
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
PubMedID: 37568214
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
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
PubMedID: 37597209
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
PubMedID: 35820489
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
PubMedID: 35085586
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
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
PubMedID: 36252692
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
PubMedID: 35309119
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
PubMedID: 35923617
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
PubMedID: 34460997
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
PubMedID: 35960041
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
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
PubMedID: 33723082
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
PubMedID: 34087978
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
PubMedID: 34324844
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
PubMedID: 34544385
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 : 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
PubMedID: 32332168
Gene_locus related to this paper: bovin-lipli , 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
PubMedID: 31669931
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
PubMedID: 32034094
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
PubMedID: 32765589
Gene_locus related to this paper: 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
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
PubMedID: 32852651
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
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
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
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
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
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
PubMedID: 30685441
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
PubMedID: 29687697
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
PubMedID: 29479812
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
PubMedID: 29718838
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
PubMedID: 30068531
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
PubMedID: 29921298
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 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
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
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
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
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
PubMedID: 28267856
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
PubMedID: 28951076
Gene_locus related to this paper: human-LIPC , 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
PubMedID: 28327359
Gene_locus related to this paper: 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
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 : 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
PubMedID: 29174344
Gene_locus related to this paper: human-LIPC , 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
PubMedID: 28958672
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
PubMedID: 27412455
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
PubMedID: 27929370
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
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
PubMedID: 27055971
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
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
PubMedID: 27578112
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
PubMedID: 26853140
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
PubMedID: 25585702
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
PubMedID: 25966443
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
PubMedID: 26337181
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
PubMedID: 24458708
Gene_locus related to this paper: human-LIPC , human-LPL , human-LIPG

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
PubMedID: 24703657
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
PubMedID: 24646025
Gene_locus related to this paper: human-LPL

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
PubMedID: 24793350
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
PubMedID: 23475957
Gene_locus related to this paper: human-ABHD5 , 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
PubMedID: 23357145
Gene_locus related to this paper: 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
PubMedID: 23960078
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
PubMedID: 22239554
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
PubMedID: 23008484
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
PubMedID: 21518912
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
PubMedID: 19237736
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
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
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
PubMedID: 18823627
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
PubMedID: 17006673
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
PubMedID: 17854791
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
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
PubMedID: 16552344
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
PubMedID: 16174715
Gene_locus related to this paper: human-LPL

Title : Complete sequencing and characterization of 21,243 full-length human cDNAs - Ota_2004_Nat.Genet_36_40
Author(s) : Ota T , Suzuki Y , Nishikawa T , Otsuki T , Sugiyama T , Irie R , Wakamatsu A , Hayashi K , Sato H , Nagai K , Kimura K , Makita H , Sekine M , Obayashi M , Nishi T , Shibahara T , Tanaka T , Ishii S , Yamamoto J , Saito K , Kawai Y , Isono Y , Nakamura Y , Nagahari K , Murakami K , Yasuda T , Iwayanagi T , Wagatsuma M , Shiratori A , Sudo H , Hosoiri T , Kaku Y , Kodaira H , Kondo H , Sugawara M , Takahashi M , Kanda K , Yokoi T , Furuya T , Kikkawa E , Omura Y , Abe K , Kamihara K , Katsuta N , Sato K , Tanikawa M , Yamazaki M , Ninomiya K , Ishibashi T , Yamashita H , Murakawa K , Fujimori K , Tanai H , Kimata M , Watanabe M , Hiraoka S , Chiba Y , Ishida S , Ono Y , Takiguchi S , Watanabe S , Yosida M , Hotuta T , Kusano J , Kanehori K , Takahashi-Fujii A , Hara H , Tanase TO , Nomura Y , Togiya S , Komai F , Hara R , Takeuchi K , Arita M , Imose N , Musashino K , Yuuki H , Oshima A , Sasaki N , Aotsuka S , Yoshikawa Y , Matsunawa H , Ichihara T , Shiohata N , Sano S , Moriya S , Momiyama H , Satoh N , Takami S , Terashima Y , Suzuki O , Nakagawa S , Senoh A , Mizoguchi H , Goto Y , Shimizu F , Wakebe H , Hishigaki H , Watanabe T , Sugiyama A , Takemoto M , Kawakami B , Watanabe K , Kumagai A , Itakura S , Fukuzumi Y , Fujimori Y , Komiyama M , Tashiro H , Tanigami A , Fujiwara T , Ono T , Yamada K , Fujii Y , Ozaki K , Hirao M , Ohmori Y , Kawabata A , Hikiji T , Kobatake N , Inagaki H , Ikema Y , Okamoto S , Okitani R , Kawakami T , Noguchi S , Itoh T , Shigeta K , Senba T , Matsumura K , Nakajima Y , Mizuno T , Morinaga M , Sasaki M , Togashi T , Oyama M , Hata H , Komatsu T , Mizushima-Sugano J , Satoh T , Shirai Y , Takahashi Y , Nakagawa K , Okumura K , Nagase T , Nomura N , Kikuchi H , Masuho Y , Yamashita R , Nakai K , Yada T , Ohara O , Isogai T , Sugano S
Ref : Nat Genet , 36 :40 , 2004
PubMedID: 14702039
Gene_locus related to this paper: human-ABHD1 , human-ABHD4 , human-ABHD12 , human-ABHD16A , human-ACOT1 , human-LDAH , human-ABHD18 , human-CES1 , human-CES4A , human-CES5A , human-CPVL , human-DAGLB , human-EPHX2 , human-KANSL3 , human-LIPA , human-LPL , human-MEST , human-NDRG1 , human-NLGN1 , human-NLGN4X , human-PRCP , human-PRSS16 , human-SERAC1 , human-TMEM53

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
PubMedID: 12641539
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
PubMedID: 11893776
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
PubMedID: 12204001
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
PubMedID: 11683775
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
PubMedID: 10735636
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
PubMedID: 11425044
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
PubMedID: 10517255
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
PubMedID: 11122694
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
PubMedID: 10481934
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
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
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 : 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
PubMedID: 10660334
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
PubMedID: 9373149
Gene_locus related to this paper: human-ACOT2 , human-LIPF , human-LPL , human-PLA1A , human-PLA2G15

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
PubMedID: 9298816
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
PubMedID: 9120004
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
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
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
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
PubMedID: 8755931
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 : 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
PubMedID: 7647785
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
PubMedID: 7868983
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
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
PubMedID: 7868979
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
PubMedID: 8135797
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
PubMedID: 7806969
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
PubMedID: 8093617
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
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
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
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
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
PubMedID: 8301230
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
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
PubMedID: 1576758
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
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
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
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
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
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
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
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
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
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
PubMedID: 1479292
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
PubMedID: 1358995
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
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
PubMedID: 1937490
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
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
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
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
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
PubMedID: 1752947
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
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
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
PubMedID: 2294743
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
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
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
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
PubMedID: 2121025
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
PubMedID: 1972631
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
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
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
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
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
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
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
PubMedID: 7104374
Gene_locus related to this paper: human-LPL