human-LCAT
Homo sapiens (Human) phosphatidylcholine-sterol acyltransferase. Lecithin-cholesterol acyltransferase
Comment
Lecithin:cholesterol acyltransferase (LCAT\; EC 2.3.1.43) is a soluble enzyme that converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high density lipoproteins. LCAT facilitates the removal of excess cholesterol from peripheral tissues to the liver. A lack of LCAT activity would be expected to lead to accumulation of free cholesterol in the tissues. The gene encoding LCAT on chromosome 16 is the site of the mutation in both lecithin-cholesterol acyltransferase deficiency (LCATD) (Norum disease) and fish-eye disease (FED)<\/A>. Two phenotypic forms are found: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. In fish-eye disease, there is only a partial LCAT deficiency that affects only alpha-LCAT activity. It is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye').there is a specific inability of LCAT to esterify cholesterol in HDL, a deficiency of alpha-LCAT function. See LCAT Mutation database<\/A>
Relationship
Family : PC-sterol_acyltransferase
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
-14X_human-LCAT
A141T_human-LCAT
A211T_human-LCAT
A93T_human-LCAT
C337Y_human-LCAT
C51Y_human-LCAT
D277N_human-LCAT
Dupl.aa-6>4_human-LCAT
E354K_human-LCAT
E388K_human-LCAT
F382V_human-LCAT
G104S_human-LCAT
G179R_human-LCAT
G183S_human-LCAT
G230R_human-LCAT
G30S_human-LCAT
G33R_human-LCAT
G344S_human-LCAT
G344V_human-LCAT
G71R_human-LCAT
G71fsX77_human-LCAT
G95R_human-LCAT
H263fsX385_human-LCAT
H35fsX61_human-LCAT
I178T_human-LCAT
IVS3-23C>A_human-LCAT
IVS4-22T>C_human-LCAT
K218N_human-LCAT
K240fsX257_human-LCAT
K53R_human-LCAT
L177fsX214_human-LCAT
L187fsX228_human-LCAT
L209P_human-LCAT
L300del_human-LCAT
L32P_human-LCAT
L372R_human-LCAT
M167fsX239_human-LCAT
M252K_human-LCAT
M293I_human-LCAT
M293T_human-LCAT
N131D_human-LCAT
N228K_human-LCAT
N391S_human-LCAT
N5I_human-LCAT
P10L_human-LCAT
P10Q_human-LCAT
P10fsX17_human-LCAT
P250R_human-LCAT
P254fsX260_human-LCAT
P307S_human-LCAT
P406L_human-LCAT
P69L_human-LCAT
Q376Tfs40_human-LCAT
R135Q_human-LCAT
R135W_human-LCAT
R140C_human-LCAT
R140H_human-LCAT
R147W_human-LCAT
R158C_human-LCAT
R23fsX76_human-LCAT
R244C_human-LCAT
R244H_human-LCAT
R276H_human-LCAT
R399C_human-LCAT
R99C_human-LCAT
S181N_human-LCAT
S19fsX26_human-LCAT
S208T_human-LCAT
S91P_human-LCAT
T-13M_human-LCAT
T123I_human-LCAT
T138fsX144_human-LCAT
T13M_human-LCAT
T274A_human-LCAT
T274I_human-LCAT
T321M_human-LCAT
T347M_human-LCAT
V28M_human-LCAT
V309M_human-LCAT
V317M_human-LCAT
V348del_human-LCAT
V46E_human-LCAT
V90M_human-LCAT
W61X_human-LCAT
W75R_human-LCAT
Y144C_human-LCAT
Y156N_human-LCAT
Y171X_human-LCAT
Y312C_human-LCAT
Y83X_human-LCAT
insG141_human-LCAT
4X96 - Low resolution crystal structure of human Lecithin:Cholesterol Acyltransferase (LCAT\; residues 21-397)
4XWG - Crystal Structure of human LCAT (C31Y) in complex with Fab1 Cholesterol Acyltransferase (LCAT (Cys31Tyr)
4XX1 - Low resolution structure of human LCAT in complex with Fab1. Lecithin:Cholesterol Acyltransferase (LCAT\; wild type)
5BV7 - Crystal structure of human LCAT (L4F, N5D) in complex with Fab of an agonistic antibody
5TXF - Crystal structure of human Lecithin:cholesterol acyltransferase (LCAT) in a closed conformation
6MVD - Crystal structure of human Lecithin:cholesterol acyltransferase (LCAT) in complex with isopropyl dodec-11-enylfluorophosphonate (IDFP) and a small molecule activator supersedes 6DTJ
No kinetic
Sequence
Peptide
MGPPGSPWQW VTLLLGLLLP PAAPFWLLNV LFPPHTTPKA ELSNHTRPVI LVPGCLGNQL EAKLDKPDVV NWMCYRKTED FFTIWLDLNM FLPLGVDCWI DNTRVVYNRS SGLVSNAPGV QIRVPGFGKT YSVEYLDSSK LAGYLHTLVQ NLVNNGYVRD ETVRAAPYDW RLEPGQQEEY YRKLAGLVEE MHAAYGKPVF LIGHSLGCLH LLYFLLRQPQ AWKDRFIDGF ISLGAPWGGS IKPMLVLASG DNQGIPIMSS IKLKEEQRIT TTSPWMFPSR MAWPEDHVFI STPSFNYTGR DFQRFFADLH FEEGWYMWLQ SRDLLAGLPA PGVEVYCLYG VGLPTPRTYI YDHGFPYTDP VGVLYEDGDD TVATRSTELC GLWQGRQPQP VHLLPLHGIQ HLNMVFSNLT LEHINAILLG AYRQGPPASP TASPEPPPPE
References (53)
| Title : A novel pathogenic variant in LCAT causing FLD. A case report - Goni Ros_2022_Acta.Clin.Belg_77_970 |
| Author(s) : Goni Ros N , Gonzalez-Tarancon R , Sienes Bailo P , Salvador-Ruperez E , Puzo Bayod M , Puzo Foncillas J |
| Ref : Acta Clin Belg , 77 :970 , 2022 |
| Abstract : |
| PubMedSearch : Goni Ros_2022_Acta.Clin.Belg_77_970 |
| PubMedID: 34789074 |
| Gene_locus related to this paper: human-LCAT |
| Title : Molecular basis for activation of lecithin:cholesterol acyltransferase by a compound that increases HDL cholesterol - Manthei_2018_Elife_7_ |
| Author(s) : Manthei KA , Yang SM , Baljinnyam B , Chang L , Glukhova A , Yuan W , Freeman LA , Maloney DJ , Schwendeman A , Remaley AT , Jadhav A , Tesmer JJ |
| Ref : Elife , 7 : , 2018 |
| Abstract : |
| PubMedSearch : Manthei_2018_Elife_7_ |
| PubMedID: 30479275 |
| Gene_locus related to this paper: human-LCAT |
| Title : A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia - Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| Author(s) : Rial-Crestelo D , Santos-Recuero I , Julve J , Blanco-Vaca F , Torralba M |
| Ref : J Clin Lipidol , 11 :1475 , 2017 |
| Abstract : |
| PubMedSearch : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| PubMedID: 28942093 |
| Gene_locus related to this paper: human-LCAT |
| Title : A retractable lid in lecithin:cholesterol acyltransferase provides a structural mechanism for activation by apolipoprotein A-I - Manthei_2017_J.Biol.Chem_292_20313 |
| Author(s) : Manthei KA , Ahn J , Glukhova A , Yuan W , Larkin C , Manett TD , Chang L , Shayman JA , Axley MJ , Schwendeman A , Tesmer JJG |
| Ref : Journal of Biological Chemistry , 292 :20313 , 2017 |
| Abstract : |
| PubMedSearch : Manthei_2017_J.Biol.Chem_292_20313 |
| PubMedID: 29030428 |
| Gene_locus related to this paper: human-LCAT |
| Title : Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency - Gomaraschi_2017_J.Lipid.Res_58_994 |
| Author(s) : Gomaraschi M , Ossoli A , Castelnuovo S , Simonelli S , Pavanello C , Balzarotti G , Arca M , Di Costanzo A , Sampietro T , Vaudo G , Baldassarre D , Veglia F , Franceschini G , Calabresi L |
| Ref : J Lipid Res , 58 :994 , 2017 |
| Abstract : |
| PubMedSearch : Gomaraschi_2017_J.Lipid.Res_58_994 |
| PubMedID: 28351888 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin:Cholesterol Acyltransferase Activation by Sulfhydryl-Reactive Small Molecules: Role of Cysteine-31 - Freeman_2017_J.Pharmacol.Exp.Ther_362_306 |
| Author(s) : Freeman LA , Demosky SJ, Jr. , Konaklieva M , Kuskovsky R , Aponte A , Ossoli AF , Gordon SM , Koby RF , Manthei KA , Shen M , Vaisman BL , Shamburek RD , Jadhav A , Calabresi L , Gucek M , Tesmer JJG , Levine RL , Remaley AT |
| Ref : Journal of Pharmacology & Experimental Therapeutics , 362 :306 , 2017 |
| Abstract : |
| PubMedSearch : Freeman_2017_J.Pharmacol.Exp.Ther_362_306 |
| PubMedID: 28576974 |
| Gene_locus related to this paper: human-LCAT |
| Title : Safety and Tolerability of ACP-501, a Recombinant Human Lecithin:Cholesterol Acyltransferase, in a Phase 1 Single-Dose Escalation Study - Shamburek_2016_Circ.Res_118_73 |
| Author(s) : Shamburek RD , Bakker-Arkema R , Shamburek AM , Freeman LA , Amar MJ , Auerbach B , Krause BR , Homan R , Adelman SJ , Collins HL , Sampson M , Wolska A , Remaley AT |
| Ref : Circulation Research , 118 :73 , 2016 |
| Abstract : |
| PubMedSearch : Shamburek_2016_Circ.Res_118_73 |
| PubMedID: 26628614 |
| Gene_locus related to this paper: human-LCAT |
| Title : A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously - Akiko_2016_CEN.Case.Rep_5_192 |
| Author(s) : Akiko T , Okura T , Nagao T , Kukida M , Enomoto D , Miyoshi KI , Higaki J , Kuroda M , Bujo H |
| Ref : CEN Case Rep , 5 :192 , 2016 |
| Abstract : |
| PubMedSearch : Akiko_2016_CEN.Case.Rep_5_192 |
| PubMedID: 28508975 |
| Gene_locus related to this paper: human-LCAT |
| Title : Agonistic Human Antibodies Binding to Lecithin-Cholesterol Acyltransferase Modulate High Density Lipoprotein Metabolism - Gunawardane_2016_J.Biol.Chem_291_2799 |
| Author(s) : Gunawardane RN , Fordstrom P , Piper DE , Masterman S , Siu S , Liu D , Brown M , Lu M , Tang J , Zhang R , Cheng J , Gates A , Meininger D , Chan J , Carlson T , Walker N , Schwarz M , Delaney J , Zhou M |
| Ref : Journal of Biological Chemistry , 291 :2799 , 2016 |
| Abstract : |
| PubMedSearch : Gunawardane_2016_J.Biol.Chem_291_2799 |
| PubMedID: 26644477 |
| Gene_locus related to this paper: human-LCAT |
| Title : [Lecithin:Cholesterol Acyltransferase Deficiency, from genes to therapy] - Lucca_2016_G.Ital.Nefrol_33_ |
| Author(s) : Lucca F , Ossoli A , Boscutti G , Franceschini G , Calabresi L |
| Ref : G Ital Nefrol , 33 : , 2016 |
| Abstract : |
| PubMedSearch : Lucca_2016_G.Ital.Nefrol_33_ |
| PubMedID: 27960011 |
| Gene_locus related to this paper: human-LCAT |
| Title : Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement - Shamburek_2016_J.Clin.Lipidol_10_356 |
| Author(s) : Shamburek RD , Bakker-Arkema R , Auerbach BJ , Krause BR , Homan R , Amar MJ , Freeman LA , Remaley AT |
| Ref : J Clin Lipidol , 10 :356 , 2016 |
| Abstract : |
| PubMedSearch : Shamburek_2016_J.Clin.Lipidol_10_356 |
| PubMedID: 27055967 |
| Gene_locus related to this paper: human-LCAT |
| Title : Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase - Glukhova_2015_Nat.Commun_6_6250 |
| Author(s) : Glukhova A , Hinkovska-Galcheva V , Kelly R , Abe A , Shayman JA , Tesmer JJ |
| Ref : Nat Commun , 6 :6250 , 2015 |
| Abstract : |
| PubMedSearch : Glukhova_2015_Nat.Commun_6_6250 |
| PubMedID: 25727495 |
| Gene_locus related to this paper: human-LCAT |
| Title : The high-resolution crystal structure of human LCAT - Piper_2015_J.Lipid.Res_56_1711 |
| Author(s) : Piper DE , Romanow WG , Gunawardane RN , Fordstrom P , Masterman S , Pan O , Thibault ST , Zhang R , Meininger D , Schwarz M , Wang Z , King C , Zhou M , Walker NP |
| Ref : J Lipid Res , 56 :1711 , 2015 |
| Abstract : |
| PubMedSearch : Piper_2015_J.Lipid.Res_56_1711 |
| PubMedID: 26195816 |
| Gene_locus related to this paper: human-LCAT |
| Title : Familial lecithin-cholesterol acyltransferase (LCAT) deficiency\; a differential of proteinuria - Althaf_2015_J.Nephropathol_4_25 |
| Author(s) : Althaf MM , Almana H , Abdelfadiel A , Amer SM , Al-Hussain TO |
| Ref : J Nephropathol , 4 :25 , 2015 |
| Abstract : |
| PubMedSearch : Althaf_2015_J.Nephropathol_4_25 |
| PubMedID: 25657982 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency - Kuroda_2014_Arterioscler.Thromb.Vasc.Biol_34_1756 |
| Author(s) : Kuroda M , Holleboom AG , Stroes ES , Asada S , Aoyagi Y , Kamata K , Yamashita S , Ishibashi S , Saito Y , Bujo H |
| Ref : Arterioscler Thromb Vasc Biol , 34 :1756 , 2014 |
| Abstract : |
| PubMedSearch : Kuroda_2014_Arterioscler.Thromb.Vasc.Biol_34_1756 |
| PubMedID: 24876348 |
| Gene_locus related to this paper: human-LCAT |
| Title : Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency - Simonelli_2013_Biologicals_41_446 |
| Author(s) : Simonelli S , Tinti C , Salvini L , Tinti L , Ossoli A , Vitali C , Sousa V , Orsini G , Nolli ML , Franceschini G , Calabresi L |
| Ref : Biologicals , 41 :446 , 2013 |
| Abstract : |
| PubMedSearch : Simonelli_2013_Biologicals_41_446 |
| PubMedID: 24140107 |
| Gene_locus related to this paper: human-LCAT |
| Title : Familial LCAT deficiency: from renal replacement to enzyme replacement - Stoekenbroek_2013_Neth.J.Med_71_29 |
| Author(s) : Stoekenbroek RM , van den Bergh Weerman MA , Hovingh GK , Potter van Loon BJ , Siegert CE , Holleboom AG |
| Ref : Neth J Med , 71 :29 , 2013 |
| Abstract : |
| PubMedSearch : Stoekenbroek_2013_Neth.J.Med_71_29 |
| PubMedID: 23412821 |
| Gene_locus related to this paper: human-LCAT |
| Title : Nephrotic syndrome caused by immune-mediated acquired LCAT deficiency - Takahashi_2013_J.Am.Soc.Nephrol_24_1305 |
| Author(s) : Takahashi S , Hiromura K , Tsukida M , Ohishi Y , Hamatani H , Sakurai N , Sakairi T , Ikeuchi H , Kaneko Y , Maeshima A , Kuroiwa T , Yokoo H , Aoki T , Nagata M , Nojima Y |
| Ref : J Am Soc Nephrol , 24 :1305 , 2013 |
| Abstract : |
| PubMedSearch : Takahashi_2013_J.Am.Soc.Nephrol_24_1305 |
| PubMedID: 23620397 |
| Gene_locus related to this paper: human-LCAT |
| Title : Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment - Naito_2013_Atherosclerosis_228_193 |
| Author(s) : Naito S , Kamata M , Furuya M , Hayashi M , Kuroda M , Bujo H , Kamata K |
| Ref : Atherosclerosis , 228 :193 , 2013 |
| Abstract : |
| PubMedSearch : Naito_2013_Atherosclerosis_228_193 |
| PubMedID: 23522979 |
| Gene_locus related to this paper: human-LCAT |
| Title : Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia - Conca_2012_J.Clin.Lipidol_6_244 |
| Author(s) : Conca P , Pileggi S , Simonelli S , Boer E , Boscutti G , Magnolo L , Tarugi P , Penco S , Franceschini G , Calabresi L , Gomaraschi M |
| Ref : J Clin Lipidol , 6 :244 , 2012 |
| Abstract : |
| PubMedSearch : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedID: 22658148 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review - Shoji_2011_Clin.Nephrol_76_323 |
| Author(s) : Shoji K , Morita H , Ishigaki Y , Rivard CJ , Takayasu M , Nakayama K , Nakayama T , Inoue Y , Ayaki M , Yoshimura A |
| Ref : Clin Nephrol , 76 :323 , 2011 |
| Abstract : |
| PubMedSearch : Shoji_2011_Clin.Nephrol_76_323 |
| PubMedID: 21955868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence - Strom_2011_Ultrastruct.Pathol_35_139 |
| Author(s) : Strom EH , Sund S , Reier-Nilsen M , Dorje C , Leren TP |
| Ref : Ultrastruct Pathol , 35 :139 , 2011 |
| Abstract : |
| PubMedSearch : Strom_2011_Ultrastruct.Pathol_35_139 |
| PubMedID: 21323422 |
| Gene_locus related to this paper: human-LCAT |
| Title : A case of familial lecithin-cholesterol acyltransferase deficiency on hemodialysis for over 20 years - Tsuchiya_2011_Clin.Nephrol_76_492 |
| Author(s) : Tsuchiya Y , Ubara Y , Hiramatsu R , Suwabe T , Hoshino J , Sumida K , Hasegawa E , Yamanouchi M , Hayami N , Marui Y , Sawa N , Hara S , Takaichi K , Oohashi K |
| Ref : Clin Nephrol , 76 :492 , 2011 |
| Abstract : |
| PubMedSearch : Tsuchiya_2011_Clin.Nephrol_76_492 |
| PubMedID: 22105454 |
| Gene_locus related to this paper: human-LCAT |
| Title : Molecular analysis of a novel LCAT mutation (Gly179 --> Arg) found in a patient with complete LCAT deficiency - Wang_2011_J.Atheroscler.Thromb_18_713 |
| Author(s) : Wang XL , Osuga J , Tazoe F , Okada K , Nagashima S , Takahashi M , Ohshiro T , Bayasgalan T , Yagyu H , Ishibashi S |
| Ref : J Atheroscler Thromb , 18 :713 , 2011 |
| Abstract : |
| PubMedSearch : Wang_2011_J.Atheroscler.Thromb_18_713 |
| PubMedID: 21597230 |
| Gene_locus related to this paper: human-LCAT |
| Title : Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase - Holleboom_2011_Atherosclerosis_216_161 |
| Author(s) : Holleboom AG , Kuivenhoven JA , van Olden CC , Peter J , Schimmel AW , Levels JH , Valentijn RM , Vos P , Defesche JC , Kastelein JJ , Hovingh GK , Stroes ES , Hollak CE |
| Ref : Atherosclerosis , 216 :161 , 2011 |
| Abstract : |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |
| Title : Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations - Katayama_2011_NDT.Plus_4_299 |
| Author(s) : Katayama A , Wada J , Kataoka HU , Yamasaki H , Teshigawara S , Terami T , Inoue K , Kanzaki M , Murakami K , Nakatsuka A , Sugiyama H , Koide N , Bujo H , Makino H |
| Ref : NDT Plus , 4 :299 , 2011 |
| Abstract : |
| PubMedSearch : Katayama_2011_NDT.Plus_4_299 |
| PubMedID: 25984174 |
| Gene_locus related to this paper: human-LCAT |
| Title : Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature - Roshan_2011_J.Clin.Lipidol_5_493 |
| Author(s) : Roshan B , Ganda OP , Desilva R , Ganim RB , Ward E , Haessler SD , Polisecki EY , Asztalos BF , Schaefer EJ |
| Ref : J Clin Lipidol , 5 :493 , 2011 |
| Abstract : |
| PubMedSearch : Roshan_2011_J.Clin.Lipidol_5_493 |
| PubMedID: 22108153 |
| Gene_locus related to this paper: human-LCAT |
| Title : Point mutation (C to T) of the LCAT gene resulting in R140C substitution - Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| Author(s) : Hirashio S , Izumi K , Ueno T , Arakawa T , Naito T , Taguchi T , Yorioka N |
| Ref : J Atheroscler Thromb , 17 :1297 , 2010 |
| Abstract : |
| PubMedSearch : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| PubMedID: 20938102 |
| Gene_locus related to this paper: human-LCAT |
| Title : Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency - Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| Author(s) : Miettinen H , Gylling H , Ulmanen I , Miettinen TA , Kontula K |
| Ref : Arterioscler Thromb Vasc Biol , 15 :460 , 1995 |
| Abstract : |
| PubMedSearch : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| PubMedID: 7749857 |
| Gene_locus related to this paper: human-LCAT |
| Title : Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene - |
| Author(s) : Wiebusch H , Cullen P , Owen JS , Collins D , Sharp PS , Funke H , Assmann G |
| Ref : Hum Mol Genet , 4 :143 , 1995 |
| PubMedID: 7711728 |
| Gene_locus related to this paper: human-LCAT |
| Title : Site-specific detection and structural characterization of the glycosylation of human plasma proteins lecithin:cholesterol acyltransferase and apolipoprotein D using HPLC\/electrospray mass spectrometry and sequential glycosidase digestion - Schindler_1995_Protein.Sci_4_791 |
| Author(s) : Schindler PA , Settineri CA , Collet X , Fielding CJ , Burlingame AL |
| Ref : Protein Science , 4 :791 , 1995 |
| Abstract : |
| PubMedSearch : Schindler_1995_Protein.Sci_4_791 |
| PubMedID: 7613477 |
| Gene_locus related to this paper: human-LCAT |
| Title : [Familial LCAT deficiency] - Kinoshita_1994_Nihon.Rinsho_52_3210 |
| Author(s) : Kinoshita M |
| Ref : Nihon Rinsho , 52 :3210 , 1994 |
| Abstract : |
| PubMedSearch : Kinoshita_1994_Nihon.Rinsho_52_3210 |
| PubMedID: 7853712 |
| Gene_locus related to this paper: human-LCAT |
| Title : Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease - Funke_1993_J.Clin.Invest_91_677 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Hornby AE , Wiebusch H , Motti C , Hayden MR , Dachet C , Jacotot B , Gerdes U , Faergeman O , Albers JJ , Colleoni N , Catapano A , Frohlich J , Assmann G |
| Ref : J Clinical Investigation , 91 :677 , 1993 |
| Abstract : |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism - Hill_1993_Biochim.Biophys.Acta_1181_321 |
| Author(s) : Hill JS , O K , Wang X , Pritchard PH |
| Ref : Biochimica & Biophysica Acta , 1181 :321 , 1993 |
| Abstract : |
| PubMedSearch : Hill_1993_Biochim.Biophys.Acta_1181_321 |
| PubMedID: 8318557 |
| Gene_locus related to this paper: human-LCAT |
| Title : An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease - Skretting_1992_Biochem.Biophys.Res.Commun_182_583 |
| Author(s) : Skretting G , Prydz H |
| Ref : Biochemical & Biophysical Research Communications , 182 :583 , 1992 |
| Abstract : |
| PubMedSearch : Skretting_1992_Biochem.Biophys.Res.Commun_182_583 |
| PubMedID: 1571050 |
| Gene_locus related to this paper: human-LCAT |
| Title : Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) - Klein_1992_J.Clin.Invest_89_499 |
| Author(s) : Klein HG , Lohse P , Pritchard PH , Bojanovski D , Schmidt H , Brewer HB, Jr. |
| Ref : J Clinical Investigation , 89 :499 , 1992 |
| Abstract : |
| PubMedSearch : Klein_1992_J.Clin.Invest_89_499 |
| PubMedID: 1737840 |
| Gene_locus related to this paper: human-LCAT |
| Title : The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. - Skretting_1992_FEBS.Lett_309_307 |
| Author(s) : Skretting G , Blomhoff JP , Solheim J , Prydz H |
| Ref : FEBS Letters , 309 :307 , 1992 |
| Abstract : |
| PubMedSearch : Skretting_1992_FEBS.Lett_309_307 |
| PubMedID: 1516702 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene - Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| Author(s) : Maeda E , Naka Y , Matozaki T , Sakuma M , Akanuma Y , Yoshino G , Kasuga M |
| Ref : Biochemical & Biophysical Research Communications , 178 :460 , 1991 |
| Abstract : |
| PubMedSearch : Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| PubMedID: 1859405 |
| Gene_locus related to this paper: human-LCAT |
| Title : Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency - Gotoda_1991_Lancet_338_778 |
| Author(s) : Gotoda T , Yamada N , Murase T , Sakuma M , Murayama N , Shimano H , Kozaki K , Albers JJ , Yazaki Y , Akanuma Y |
| Ref : Lancet , 338 :778 , 1991 |
| Abstract : |
| PubMedSearch : Gotoda_1991_Lancet_338_778 |
| PubMedID: 1681161 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele - Taramelli_1990_Hum.Genet_85_195 |
| Author(s) : Taramelli R , Pontoglio M , Candiani G , Ottolenghi S , Dieplinger H , Catapano A , Albers J , Vergani C , McLean J |
| Ref : Hum Genet , 85 :195 , 1990 |
| Abstract : |
| PubMedSearch : Taramelli_1990_Hum.Genet_85_195 |
| PubMedID: 2370048 |
| Gene_locus related to this paper: human-LCAT |
| Title : Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma - Holmquist_1987_Acta.Med.Scand_222_15 |
| Author(s) : Holmquist L , Carlson LA |
| Ref : Acta Med Scand , 222 :15 , 1987 |
| Abstract : |
| PubMedSearch : Holmquist_1987_Acta.Med.Scand_222_15 |
| PubMedID: 3630774 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme - Yang_1987_J.Biol.Chem_262_3086 |
| Author(s) : Yang CY , Manoogian D , Pao Q , Lee FS , Knapp RD , Gotto AM, Jr. , Pownall HJ |
| Ref : Journal of Biological Chemistry , 262 :3086 , 1987 |
| Abstract : |
| PubMedSearch : Yang_1987_J.Biol.Chem_262_3086 |
| PubMedID: 2880847 |
| Gene_locus related to this paper: human-LCAT |
| Title : The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease - Rogne_1987_Biochem.Biophys.Res.Commun_148_161 |
| Author(s) : Rogne S , Skretting G , Larsen F , Myklebost O , Mevag B , Carlson LA , Holmquist L , Gjone E , Prydz H |
| Ref : Biochemical & Biophysical Research Communications , 148 :161 , 1987 |
| Abstract : |
| PubMedSearch : Rogne_1987_Biochem.Biophys.Res.Commun_148_161 |
| PubMedID: 2823801 |
| Gene_locus related to this paper: human-LCAT |
| Title : The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase - Tata_1987_Biochim.Biophys.Acta_910_142 |
| Author(s) : Tata F , Chaves ME , Markham AF , Scrace GD , Waterfield MD , McIntyre N , Williamson R , Humphries SE |
| Ref : Biochimica & Biophysica Acta , 910 :142 , 1987 |
| Abstract : |
| PubMedSearch : Tata_1987_Biochim.Biophys.Acta_910_142 |
| PubMedID: 2823898 |
| Gene_locus related to this paper: human-LCAT |
| Title : Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease - Holmquist_1987_Acta.Med.Scand_222_23 |
| Author(s) : Holmquist L , Carlson LA |
| Ref : Acta Med Scand , 222 :23 , 1987 |
| Abstract : |
| PubMedSearch : Holmquist_1987_Acta.Med.Scand_222_23 |
| PubMedID: 3630775 |
| Gene_locus related to this paper: human-LCAT |
| Title : Cloning and expression of human lecithin-cholesterol acyltransferase cDNA - McLean_1986_Proc.Natl.Acad.Sci.U.S.A_83_2335 |
| Author(s) : McLean J , Fielding C , Drayna D , Dieplinger H , Baer B , Kohr W , Henzel W , Lawn R |
| Ref : Proc Natl Acad Sci U S A , 83 :2335 , 1986 |
| Abstract : |
| PubMedSearch : McLean_1986_Proc.Natl.Acad.Sci.U.S.A_83_2335 |
| PubMedID: 3458198 |
| Gene_locus related to this paper: human-LCAT |
| Title : Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression - McLean_1986_Nucleic.Acids.Res_14_9397 |
| Author(s) : McLean J , Wion K , Drayna D , Fielding C , Lawn R |
| Ref : Nucleic Acids Research , 14 :9397 , 1986 |
| Abstract : |
| PubMedSearch : McLean_1986_Nucleic.Acids.Res_14_9397 |
| PubMedID: 3797244 |
| Gene_locus related to this paper: human-LCAT |
| Title : Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease - Carlson_1985_Acta.Med.Scand_218_189 |
| Author(s) : Carlson LA , Holmquist L |
| Ref : Acta Med Scand , 218 :189 , 1985 |
| Abstract : |
| PubMedSearch : Carlson_1985_Acta.Med.Scand_218_189 |
| PubMedID: 4061122 |
| Gene_locus related to this paper: human-LCAT |
| Title : Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects - Carlson_1985_Acta.Med.Scand_218_197 |
| Author(s) : Carlson LA , Holmquist L |
| Ref : Acta Med Scand , 218 :197 , 1985 |
| Abstract : |
| PubMedSearch : Carlson_1985_Acta.Med.Scand_218_197 |
| PubMedID: 4061123 |
| Gene_locus related to this paper: human-LCAT |
| Title : Renal failure in familial lecithin: cholesterol acyltransferase deficiency - Borysiewicz_1982_Q.J.Med_51_411 |
| Author(s) : Borysiewicz LK , Soutar AK , Evans DJ , Thompson GR , Rees AJ |
| Ref : Q J Med , 51 :411 , 1982 |
| Abstract : |
| PubMedSearch : Borysiewicz_1982_Q.J.Med_51_411 |
| PubMedID: 7156322 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin: cholesterol acyl transferase (LCAT) - Frohlich_1982_Clin.Biochem_15_269 |
| Author(s) : Frohlich J , McLeod R , Hon K |
| Ref : Clinical Biochemistry , 15 :269 , 1982 |
| Abstract : |
| PubMedSearch : Frohlich_1982_Clin.Biochem_15_269 |
| PubMedID: 6762928 |
| Gene_locus related to this paper: human-LCAT |
| Title : Effect of organophosphate pesticides on the activities of lecithin- cholesterol acyltransferase and cholinesterase in rat serum - |
| Author(s) : Nakagawa M , Kobayashi H , Katsuya M , Takada N , Kojima S |
| Ref : Chem Pharm Bull (Tokyo) , 30 :214 , 1982 |
| PubMedID: 7083404 |
| Gene_locus related to this paper: human-LCAT , ratno-lipli |
| Title : Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia - Carlson_1979_Lancet_2_922 |
| Author(s) : Carlson LA , Philipson B |
| Ref : Lancet , 2 :922 , 1979 |
| Abstract : |
| PubMedSearch : Carlson_1979_Lancet_2_922 |
| PubMedID: 91022 |
| Gene_locus related to this paper: human-LCAT |