Alternative name(s) : Lecithin_cholesterol acyltransferase deficiency, LCAT deficiency, Norum disease, fish-eye disease (FED), fish eye disease
Gene_locus : human-LCAT
Mutation : 91 mutations S208T_human-LCAT M293I_human-LCAT insG141_human-LCAT N228K_human-LCAT P10fsX17_human-LCAT P10L_human-LCAT P10Q_human-LCAT R135Q_human-LCAT T123I_human-LCAT T347M_human-LCAT M252K_human-LCAT L209P_human-LCAT R135W_human-LCAT Q376Tfs40_human-LCAT T321M_human-LCAT Y83X_human-LCAT L300del_human-LCAT N131D_human-LCAT R140H_human-LCAT IVS4-22T>C_human-LCAT G33R_human-LCAT Dupl.aa-6>4_human-LCAT G30S_human-LCAT P406L_human-LCAT E388K_human-LCAT E354K_human-LCAT V348del_human-LCAT V317M_human-LCAT Y312C_human-LCAT R276H_human-LCAT K53R_human-LCAT -14X_human-LCAT T-13M_human-LCAT N5I_human-LCAT T13M_human-LCAT S19fsX26_human-LCAT R23fsX76_human-LCAT V28M_human-LCAT L32P_human-LCAT H35fsX61_human-LCAT V46E_human-LCAT W61X_human-LCAT G71fsX77_human-LCAT W75R_human-LCAT V90M_human-LCAT S91P_human-LCAT R99C_human-LCAT G104S_human-LCAT IVS3-23C>A_human-LCAT T138fsX144_human-LCAT R140C_human-LCAT A141T_human-LCAT Y144C_human-LCAT Y156N_human-LCAT M167fsX239_human-LCAT Y171X_human-LCAT L177fsX214_human-LCAT I178T_human-LCAT S181N_human-LCAT G183S_human-LCAT L187fsX228_human-LCAT A211T_human-LCAT K218N_human-LCAT G230R_human-LCAT K240fsX257_human-LCAT R244C_human-LCAT R244H_human-LCAT P250R_human-LCAT P254fsX260_human-LCAT H263fsX385_human-LCAT T274A_human-LCAT T274I_human-LCAT D277N_human-LCAT P307S_human-LCAT V309M_human-LCAT C337Y_human-LCAT G344S_human-LCAT G344V_human-LCAT L372R_human-LCAT F382V_human-LCAT N391S_human-LCAT R399C_human-LCAT R147W_human-LCAT M293T_human-LCAT P69L_human-LCAT C51Y_human-LCAT G179R_human-LCAT G71R_human-LCAT A93T_human-LCAT R158C_human-LCAT G95R_human-LCAT
OMIM : 606967 , 245900 , 136120
Comment
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). 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>
| 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 : Goni Ros_2022_Acta.Clin.Belg_77_970 |
| ESTHER : Goni Ros_2022_Acta.Clin.Belg_77_970 |
| PubMedSearch : Goni Ros_2022_Acta.Clin.Belg_77_970 |
| PubMedID: 34789074 |
| 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 : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| ESTHER : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| PubMedSearch : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| PubMedID: 28942093 |
| 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 : Gomaraschi_2017_J.Lipid.Res_58_994 |
| ESTHER : Gomaraschi_2017_J.Lipid.Res_58_994 |
| PubMedSearch : Gomaraschi_2017_J.Lipid.Res_58_994 |
| PubMedID: 28351888 |
| 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 : Akiko_2016_CEN.Case.Rep_5_192 |
| ESTHER : Akiko_2016_CEN.Case.Rep_5_192 |
| PubMedSearch : Akiko_2016_CEN.Case.Rep_5_192 |
| PubMedID: 28508975 |
| Gene_locus related to this paper: human-LCAT |
| Title : Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease - Gopalakrishnan_2016_J.Assoc.Physicians.India_64_90 |
| Author(s) : Gopalakrishnan N , Arul R , Dhanapriya J , Kumar TD , Sakthirajan R , Balasubramaniyan T |
| Ref : J Assoc Physicians India , 64 :90 , 2016 |
| Abstract : Gopalakrishnan_2016_J.Assoc.Physicians.India_64_90 |
| ESTHER : Gopalakrishnan_2016_J.Assoc.Physicians.India_64_90 |
| PubMedSearch : Gopalakrishnan_2016_J.Assoc.Physicians.India_64_90 |
| PubMedID: 27766813 |
| Title : Lipoprotein X Causes Renal Disease in LCAT Deficiency - Ossoli_2016_PLoS.One_11_e0150083 |
| Author(s) : Ossoli A , Neufeld EB , Thacker SG , Vaisman B , Pryor M , Freeman LA , Brantner CA , Baranova I , Francone NO , Demosky SJ, Jr. , Vitali C , Locatelli M , Abbate M , Zoja C , Franceschini G , Calabresi L , Remaley AT |
| Ref : PLoS ONE , 11 :e0150083 , 2016 |
| Abstract : Ossoli_2016_PLoS.One_11_e0150083 |
| ESTHER : Ossoli_2016_PLoS.One_11_e0150083 |
| PubMedSearch : Ossoli_2016_PLoS.One_11_e0150083 |
| PubMedID: 26919698 |
| Gene_locus related to this paper: mouse-lcat |
| Title : Secret in the eyes - fish eye disease - |
| Author(s) : Ingle VK , Maharana PK , Rajesh P |
| Ref : Indian J Nephrol , 26 :313 , 2016 |
| PubMedID: 27512314 |
| 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 : Lucca_2016_G.Ital.Nefrol_33_ |
| ESTHER : Lucca_2016_G.Ital.Nefrol_33_ |
| 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 : Shamburek_2016_J.Clin.Lipidol_10_356 |
| ESTHER : Shamburek_2016_J.Clin.Lipidol_10_356 |
| PubMedSearch : Shamburek_2016_J.Clin.Lipidol_10_356 |
| PubMedID: 27055967 |
| 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 : Shamburek_2016_Circ.Res_118_73 |
| ESTHER : Shamburek_2016_Circ.Res_118_73 |
| PubMedSearch : Shamburek_2016_Circ.Res_118_73 |
| PubMedID: 26628614 |
| 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 : Althaf_2015_J.Nephropathol_4_25 |
| ESTHER : Althaf_2015_J.Nephropathol_4_25 |
| PubMedSearch : Althaf_2015_J.Nephropathol_4_25 |
| PubMedID: 25657982 |
| Gene_locus related to this paper: human-LCAT |
| Title : Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family - Mahapatra_2015_Indian.J.Nephrol_25_362 |
| Author(s) : Mahapatra HS , Ramanarayanan S , Gupta A , Bhardwaj M |
| Ref : Indian J Nephrol , 25 :362 , 2015 |
| Abstract : Mahapatra_2015_Indian.J.Nephrol_25_362 |
| ESTHER : Mahapatra_2015_Indian.J.Nephrol_25_362 |
| PubMedSearch : Mahapatra_2015_Indian.J.Nephrol_25_362 |
| PubMedID: 26664212 |
| Title : Familial LCAT deficiency in a child with nephrotic syndrome - Rajpal_2014_Clin.Nephrol_82_211 |
| Author(s) : Rajpal JS , Mapel-Lentz J , Mancera AD , Reed RC , Kim Y , Chavers BM |
| Ref : Clin Nephrol , 82 :211 , 2014 |
| Abstract : Rajpal_2014_Clin.Nephrol_82_211 |
| ESTHER : Rajpal_2014_Clin.Nephrol_82_211 |
| PubMedSearch : Rajpal_2014_Clin.Nephrol_82_211 |
| PubMedID: 23391322 |
| 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 : Simonelli_2013_Biologicals_41_446 |
| ESTHER : Simonelli_2013_Biologicals_41_446 |
| 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 : Stoekenbroek_2013_Neth.J.Med_71_29 |
| ESTHER : Stoekenbroek_2013_Neth.J.Med_71_29 |
| 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 : Takahashi_2013_J.Am.Soc.Nephrol_24_1305 |
| ESTHER : Takahashi_2013_J.Am.Soc.Nephrol_24_1305 |
| 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 : Naito_2013_Atherosclerosis_228_193 |
| ESTHER : Naito_2013_Atherosclerosis_228_193 |
| PubMedSearch : Naito_2013_Atherosclerosis_228_193 |
| PubMedID: 23522979 |
| Gene_locus related to this paper: human-LCAT |
| Title : Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency - Savel_2012_Vasc.Health.Risk.Manag_8_357 |
| Author(s) : Savel J , Lafitte M , Pucheu Y , Pradeau V , Tabarin A , Couffinhal T |
| Ref : Vasc Health Risk Manag , 8 :357 , 2012 |
| Abstract : Savel_2012_Vasc.Health.Risk.Manag_8_357 |
| ESTHER : Savel_2012_Vasc.Health.Risk.Manag_8_357 |
| PubMedSearch : Savel_2012_Vasc.Health.Risk.Manag_8_357 |
| PubMedID: 22701329 |
| Title : Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease - Calabresi_2012_Atherosclerosis_222_299 |
| Author(s) : Calabresi L , Simonelli S , Gomaraschi M , Franceschini G |
| Ref : Atherosclerosis , 222 :299 , 2012 |
| Abstract : Calabresi_2012_Atherosclerosis_222_299 |
| ESTHER : Calabresi_2012_Atherosclerosis_222_299 |
| PubMedSearch : Calabresi_2012_Atherosclerosis_222_299 |
| PubMedID: 22189200 |
| 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 : Conca_2012_J.Clin.Lipidol_6_244 |
| ESTHER : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedSearch : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedID: 22658148 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice - Hager_2012_J.Biol.Chem_287_20755 |
| Author(s) : Hager L , Li L , Pun H , Liu L , Hossain MA , Maguire GF , Naples M , Baker C , Magomedova L , Tam J , Adeli K , Cummins CL , Connelly PW , Ng DS |
| Ref : Journal of Biological Chemistry , 287 :20755 , 2012 |
| Abstract : Hager_2012_J.Biol.Chem_287_20755 |
| ESTHER : Hager_2012_J.Biol.Chem_287_20755 |
| PubMedSearch : Hager_2012_J.Biol.Chem_287_20755 |
| PubMedID: 22500017 |
| 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 : Strom_2011_Ultrastruct.Pathol_35_139 |
| ESTHER : Strom_2011_Ultrastruct.Pathol_35_139 |
| 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 : Tsuchiya_2011_Clin.Nephrol_76_492 |
| ESTHER : Tsuchiya_2011_Clin.Nephrol_76_492 |
| 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 : Wang_2011_J.Atheroscler.Thromb_18_713 |
| ESTHER : Wang_2011_J.Atheroscler.Thromb_18_713 |
| 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 : Holleboom_2011_Atherosclerosis_216_161 |
| ESTHER : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |
| Title : [LCAT deficiency: a nephrological diagnosis] - Boscutti_2011_G.Ital.Nefrol_28_369 |
| Author(s) : Boscutti G , Calabresi L , Pizzolitto S , Boer E , Bosco M , Mattei PL , Martone M , Milutinovic N , Berbecar D , Beltram E , Franceschini G |
| Ref : G Ital Nefrol , 28 :369 , 2011 |
| Abstract : Boscutti_2011_G.Ital.Nefrol_28_369 |
| ESTHER : Boscutti_2011_G.Ital.Nefrol_28_369 |
| PubMedSearch : Boscutti_2011_G.Ital.Nefrol_28_369 |
| PubMedID: 21809306 |
| 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 : Katayama_2011_NDT.Plus_4_299 |
| ESTHER : Katayama_2011_NDT.Plus_4_299 |
| PubMedSearch : Katayama_2011_NDT.Plus_4_299 |
| PubMedID: 25984174 |
| Gene_locus related to this paper: human-LCAT |
| Title : Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency - Miarka_2011_Clin.Exp.Nephrol_15_424 |
| Author(s) : Miarka P , Idzior-Walus B , Kuzniewski M , Walus-Miarka M , Klupa T , Sulowicz W |
| Ref : Clin Exp Nephrol , 15 :424 , 2011 |
| Abstract : Miarka_2011_Clin.Exp.Nephrol_15_424 |
| ESTHER : Miarka_2011_Clin.Exp.Nephrol_15_424 |
| PubMedSearch : Miarka_2011_Clin.Exp.Nephrol_15_424 |
| PubMedID: 21327698 |
| 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 : Roshan_2011_J.Clin.Lipidol_5_493 |
| ESTHER : Roshan_2011_J.Clin.Lipidol_5_493 |
| PubMedSearch : Roshan_2011_J.Clin.Lipidol_5_493 |
| PubMedID: 22108153 |
| 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 : Shoji_2011_Clin.Nephrol_76_323 |
| ESTHER : Shoji_2011_Clin.Nephrol_76_323 |
| PubMedSearch : Shoji_2011_Clin.Nephrol_76_323 |
| PubMedID: 21955868 |
| 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 : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| ESTHER : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| PubMedSearch : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| PubMedID: 20938102 |
| Gene_locus related to this paper: human-LCAT |
| Title : Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype - Baass_2009_Atherosclerosis_207_452 |
| Author(s) : Baass A , Wassef H , Tremblay M , Bernier L , Dufour R , Davignon J |
| Ref : Atherosclerosis , 207 :452 , 2009 |
| Abstract : Baass_2009_Atherosclerosis_207_452 |
| ESTHER : Baass_2009_Atherosclerosis_207_452 |
| PubMedSearch : Baass_2009_Atherosclerosis_207_452 |
| PubMedID: 19515369 |
| Title : Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency - |
| Author(s) : Weber CL , Frohlich J , Wang J , Hegele RA , Chan-Yan C |
| Ref : Nephrol Dial Transplant , 22 :2084 , 2007 |
| PubMedID: 17452402 |
| Title : Molecular characterization of two patients with severe LCAT deficiency - |
| Author(s) : Charlton-Menys V , Pisciotta L , Durrington PN , Neary R , Short CD , Calabresi L , Calandra S , Bertolini S |
| Ref : Nephrol Dial Transplant , 22 :2379 , 2007 |
| PubMedID: 17526537 |
| Title : A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency - Bender_2007_Clin.Chem.Lab.Med_45_483 |
| Author(s) : Bender BU , Quaschning T , Neumann HP , Schmidt D , Kraemer-Guth A |
| Ref : Clinical Chemistry & Laboratory Medicine , 45 :483 , 2007 |
| Abstract : Bender_2007_Clin.Chem.Lab.Med_45_483 |
| ESTHER : Bender_2007_Clin.Chem.Lab.Med_45_483 |
| PubMedSearch : Bender_2007_Clin.Chem.Lab.Med_45_483 |
| PubMedID: 17439325 |
| Title : The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families - Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| Author(s) : Calabresi L , Pisciotta L , Costantin A , Frigerio I , Eberini I , Alessandrini P , Arca M , Bon GB , Boscutti G , Busnach G , Frasca G , Gesualdo L , Gigante M , Lupattelli G , Montali A , Pizzolitto S , Rabbone I , Rolleri M , Ruotolo G , Sampietro T , Sessa A , Vaudo G , Cantafora A , Veglia F , Calandra S , Bertolini S , Franceschini G |
| Ref : Arterioscler Thromb Vasc Biol , 25 :1972 , 2005 |
| Abstract : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| ESTHER : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| PubMedSearch : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| PubMedID: 15994445 |
| Title : A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene - |
| Author(s) : Frasca GM , Soverini L , Tampieri E , Franceschini G , Calabresi L , Pisciotta L , Preda P , Vangelista A , Stefoni S , Bertolini S |
| Ref : Nephrol Dial Transplant , 19 :1622 , 2004 |
| PubMedID: 15150357 |
| Title : Multiple rare alleles contribute to low plasma levels of HDL cholesterol - Cohen_2004_Science_305_869 |
| Author(s) : Cohen JC , Kiss RS , Pertsemlidis A , Marcel YL , McPherson R , Hobbs HH |
| Ref : Science , 305 :869 , 2004 |
| Abstract : Cohen_2004_Science_305_869 |
| ESTHER : Cohen_2004_Science_305_869 |
| PubMedSearch : Cohen_2004_Science_305_869 |
| PubMedID: 15297675 |
| Title : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
| Ref : J Atheroscler Thromb , 11 :131 , 2004 |
| Abstract : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| ESTHER : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedID: 15256764 |
| Title : A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100 - Nanjee_2003_Atherosclerosis_170_105 |
| Author(s) : Nanjee MN , Stocks J , Cooke CJ , Molhuizen HO , Marcovina S , Crook D , Kastelein JP , Miller NE |
| Ref : Atherosclerosis , 170 :105 , 2003 |
| Abstract : Nanjee_2003_Atherosclerosis_170_105 |
| ESTHER : Nanjee_2003_Atherosclerosis_170_105 |
| PubMedSearch : Nanjee_2003_Atherosclerosis_170_105 |
| PubMedID: 12957688 |
| Title : Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia - Recalde_2002_Atherosclerosis_163_49 |
| Author(s) : Recalde D , Cenarro A , Garcia-Otin AL , Gomez-Coronado D , Civeira F , Pocovi M |
| Ref : Atherosclerosis , 163 :49 , 2002 |
| Abstract : Recalde_2002_Atherosclerosis_163_49 |
| ESTHER : Recalde_2002_Atherosclerosis_163_49 |
| PubMedSearch : Recalde_2002_Atherosclerosis_163_49 |
| PubMedID: 12048121 |
| Title : Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men - Talmud_2002_Ann.Hum.Genet_66_111 |
| Author(s) : Talmud PJ , Hawe E , Robertson K , Miller GJ , Miller NE , Humphries SE |
| Ref : Ann Hum Genet , 66 :111 , 2002 |
| Abstract : Talmud_2002_Ann.Hum.Genet_66_111 |
| ESTHER : Talmud_2002_Ann.Hum.Genet_66_111 |
| PubMedSearch : Talmud_2002_Ann.Hum.Genet_66_111 |
| PubMedID: 12174215 |
| Title : A novel TC deletion resulting in Pro(260)-->Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol - Kasid_2001_Atherosclerosis_156_127 |
| Author(s) : Kasid A , Rhyne J , Zeller K , Pritchard H , Miller M |
| Ref : Atherosclerosis , 156 :127 , 2001 |
| Abstract : Kasid_2001_Atherosclerosis_156_127 |
| ESTHER : Kasid_2001_Atherosclerosis_156_127 |
| PubMedSearch : Kasid_2001_Atherosclerosis_156_127 |
| PubMedID: 11369005 |
| Title : Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations - Sessa_2001_Nephron_88_268 |
| Author(s) : Sessa A , Battini G , Meroni M , Daidone G , Carnera I , Brambilla PL , Vigano G , Giordano F , Pallotti F , Torri Tarelli L , Calabresi L , Rolleri M , Bertolini S |
| Ref : Nephron , 88 :268 , 2001 |
| Abstract : Sessa_2001_Nephron_88_268 |
| ESTHER : Sessa_2001_Nephron_88_268 |
| PubMedSearch : Sessa_2001_Nephron_88_268 |
| PubMedID: 11423760 |
| Title : Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144 - Teh_1999_Atherosclerosis_146_141 |
| Author(s) : Teh EM , Chisholm JW , Dolphin PJ , Pouliquen Y , Savoldelli M , De Gennes JL , Benlian P |
| Ref : Atherosclerosis , 146 :141 , 1999 |
| Abstract : Teh_1999_Atherosclerosis_146_141 |
| ESTHER : Teh_1999_Atherosclerosis_146_141 |
| PubMedSearch : Teh_1999_Atherosclerosis_146_141 |
| PubMedID: 10487497 |
| Title : Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity - Peelman_1999_J.Lipid.Res_40_59 |
| Author(s) : Peelman F , Verschelde JL , Vanloo B , Ampe C , Labeur C , Tavernier J , Vandekerckhove J , Rosseneu M |
| Ref : J Lipid Res , 40 :59 , 1999 |
| Abstract : Peelman_1999_J.Lipid.Res_40_59 |
| ESTHER : Peelman_1999_J.Lipid.Res_40_59 |
| PubMedSearch : Peelman_1999_J.Lipid.Res_40_59 |
| PubMedID: 9869650 |
| Title : Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5\% of cases with very low serum HDL cholesterol levels - Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591 |
| Author(s) : Miettinen HE , Gylling H , Tenhunen J , Virtamo J , Jauhiainen M , Huttunen JK , Kantola I , Miettinen TA , Kontula K |
| Ref : Arterioscler Thromb Vasc Biol , 18 :591 , 1998 |
| Abstract : Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591 |
| ESTHER : Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591 |
| PubMedSearch : Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591 |
| PubMedID: 9555865 |
| Title : Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband - Argyropoulos_1998_J.Lipid.Res_39_1870 |
| Author(s) : Argyropoulos G , Jenkins A , Klein RL , Lyons T , Wagenhorst B , St Armand J , Marcovina SM , Albers JJ , Pritchard PH , Garvey WT |
| Ref : J Lipid Res , 39 :1870 , 1998 |
| Abstract : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| ESTHER : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedSearch : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedID: 9741700 |
| Title : Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband - Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| Author(s) : Cirera S , Julve J , Ferrer I , Mainou C , Bonet R , Martin-Campos JM , Gonzalez-Sastre F , Blanco-Vaca F |
| Ref : Clinical Chemistry & Laboratory Medicine , 36 :443 , 1998 |
| Abstract : Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| ESTHER : Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| PubMedSearch : Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| PubMedID: 9746267 |
| Title : Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop) - Guerin_1997_Atherosclerosis_131_85 |
| Author(s) : Guerin M , Dachet C , Goulinet S , Chevet D , Dolphin PJ , Chapman MJ , Rouis M |
| Ref : Atherosclerosis , 131 :85 , 1997 |
| Abstract : Guerin_1997_Atherosclerosis_131_85 |
| ESTHER : Guerin_1997_Atherosclerosis_131_85 |
| PubMedSearch : Guerin_1997_Atherosclerosis_131_85 |
| PubMedID: 9180249 |
| Title : Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea - Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| Author(s) : Blanco-Vaca F , Qu SJ , Fiol C , Fan HZ , Pao Q , Marzal-Casacuberta A , Albers JJ , Hurtado I , Gracia V , Pinto X , Marti T , Pownall HJ |
| Ref : Arterioscler Thromb Vasc Biol , 17 :1382 , 1997 |
| Abstract : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| ESTHER : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| PubMedSearch : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| PubMedID: 9261271 |
| Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358 |
| Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ |
| Ref : J Clinical Investigation , 98 :358 , 1996 |
| Abstract : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| ESTHER : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedID: 8755645 |
| Title : A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency - Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| Author(s) : Okubo M , Aoyama Y , Shio H , Albers JJ , Murase T |
| Ref : Int J Clin Lab Res , 26 :250 , 1996 |
| Abstract : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| ESTHER : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| PubMedSearch : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| PubMedID: 9007616 |
| Title : A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease - Contacos_1996_J.Lipid.Res_37_35 |
| Author(s) : Contacos C , Sullivan DR , Rye KA , Funke H , Assmann G |
| Ref : J Lipid Res , 37 :35 , 1996 |
| Abstract : Contacos_1996_J.Lipid.Res_37_35 |
| ESTHER : Contacos_1996_J.Lipid.Res_37_35 |
| PubMedSearch : Contacos_1996_J.Lipid.Res_37_35 |
| PubMedID: 8820100 |
| Title : A unique genetic and biochemical presentation of fish-eye disease - Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| Author(s) : Kuivenhoven JA , van Voorst tot Voorst EJ , Wiebusch H , Marcovina SM , Funke H , Assmann G , Pritchard PH , Kastelein JJ |
| Ref : J Clinical Investigation , 96 :2783 , 1995 |
| Abstract : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| ESTHER : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedID: 8675648 |
| 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 : 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 : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| ESTHER : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| PubMedSearch : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| PubMedID: 7749857 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA - Miller_1995_J.Lipid.Res_36_931 |
| Author(s) : Miller M , Zeller K , Kwiterovich PC , Albers JJ , Feulner G |
| Ref : J Lipid Res , 36 :931 , 1995 |
| Abstract : Miller_1995_J.Lipid.Res_36_931 |
| ESTHER : Miller_1995_J.Lipid.Res_36_931 |
| PubMedSearch : Miller_1995_J.Lipid.Res_36_931 |
| PubMedID: 7658165 |
| Title : A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency - Steyrer_1995_Hum.Genet_96_105 |
| Author(s) : Steyrer E , Haubenwallner S , Horl G , Giessauf W , Kostner GM , Zechner R |
| Ref : Hum Genet , 96 :105 , 1995 |
| Abstract : Steyrer_1995_Hum.Genet_96_105 |
| ESTHER : Steyrer_1995_Hum.Genet_96_105 |
| PubMedSearch : Steyrer_1995_Hum.Genet_96_105 |
| PubMedID: 7607641 |
| Title : Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser) - Moriyama_1995_J.Lipid.Res_36_2329 |
| Author(s) : Moriyama K , Sasaki J , Arakawa F , Takami N , Maeda E , Matsunaga A , Takada Y , Midorikawa K , Yanase T , Yoshino G , Marcovina SM , Albers JJ , Arakawa K |
| Ref : J Lipid Res , 36 :2329 , 1995 |
| Abstract : Moriyama_1995_J.Lipid.Res_36_2329 |
| ESTHER : Moriyama_1995_J.Lipid.Res_36_2329 |
| PubMedSearch : Moriyama_1995_J.Lipid.Res_36_2329 |
| PubMedID: 8656071 |
| Title : [Familial LCAT deficiency] - Kinoshita_1994_Nihon.Rinsho_52_3210 |
| Author(s) : Kinoshita M |
| Ref : Nihon Rinsho , 52 :3210 , 1994 |
| Abstract : Kinoshita_1994_Nihon.Rinsho_52_3210 |
| ESTHER : Kinoshita_1994_Nihon.Rinsho_52_3210 |
| PubMedSearch : Kinoshita_1994_Nihon.Rinsho_52_3210 |
| PubMedID: 7853712 |
| Gene_locus related to this paper: human-LCAT |
| Title : Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease - Rader_1994_J.Clin.Invest_93_321 |
| Author(s) : Rader DJ , Ikewaki K , Duverger N , Schmidt H , Pritchard H , Frohlich J , Clerc M , Dumon MF , Fairwell T , Zech L , Santamarina-Fojo S , Brewer HB, Jr. , et al. |
| Ref : J Clinical Investigation , 93 :321 , 1994 |
| Abstract : Rader_1994_J.Clin.Invest_93_321 |
| ESTHER : Rader_1994_J.Clin.Invest_93_321 |
| PubMedSearch : Rader_1994_J.Clin.Invest_93_321 |
| PubMedID: 8282802 |
| 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 : Funke_1993_J.Clin.Invest_91_677 |
| ESTHER : Funke_1993_J.Clin.Invest_91_677 |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn) - Klein_1993_J.Lipid.Res_34_49 |
| Author(s) : Klein HG , Lohse P , Duverger N , Albers JJ , Rader DJ , Zech LA , Santamarina-Fojo S , Brewer HB, Jr. |
| Ref : J Lipid Res , 34 :49 , 1993 |
| Abstract : Klein_1993_J.Lipid.Res_34_49 |
| ESTHER : Klein_1993_J.Lipid.Res_34_49 |
| PubMedSearch : Klein_1993_J.Lipid.Res_34_49 |
| PubMedID: 8445342 |
| Title : Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis - Klein_1993_J.Clin.Invest_92_479 |
| Author(s) : Klein HG , Santamarina-Fojo S , Duverger N , Clerc M , Dumon MF , Albers JJ , Marcovina S , Brewer HB, Jr. |
| Ref : J Clinical Investigation , 92 :479 , 1993 |
| Abstract : Klein_1993_J.Clin.Invest_92_479 |
| ESTHER : Klein_1993_J.Clin.Invest_92_479 |
| PubMedSearch : Klein_1993_J.Clin.Invest_92_479 |
| PubMedID: 8326012 |
| 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 : Skretting_1992_Biochem.Biophys.Res.Commun_182_583 |
| ESTHER : Skretting_1992_Biochem.Biophys.Res.Commun_182_583 |
| 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 : Klein_1992_J.Clin.Invest_89_499 |
| ESTHER : Klein_1992_J.Clin.Invest_89_499 |
| 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 : Skretting_1992_FEBS.Lett_309_307 |
| ESTHER : Skretting_1992_FEBS.Lett_309_307 |
| PubMedSearch : Skretting_1992_FEBS.Lett_309_307 |
| PubMedID: 1516702 |
| Gene_locus related to this paper: human-LCAT |
| Title : Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent - Kastelein_1992_J.Intern.Med_231_413 |
| Author(s) : Kastelein JJ , Pritchard PH , Erkelens DW , Kuivenhoven JA , Albers JJ , Frohlich JJ |
| Ref : J Intern Med , 231 :413 , 1992 |
| Abstract : Kastelein_1992_J.Intern.Med_231_413 |
| ESTHER : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedSearch : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedID: 1588268 |
| 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 : Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| ESTHER : Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| 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 : Gotoda_1991_Lancet_338_778 |
| ESTHER : Gotoda_1991_Lancet_338_778 |
| PubMedSearch : Gotoda_1991_Lancet_338_778 |
| PubMedID: 1681161 |
| Gene_locus related to this paper: human-LCAT |
| Title : A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity - Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Albers JJ , Kastelein JJ , Droste C , Assmann G |
| Ref : Proc Natl Acad Sci U S A , 88 :4855 , 1991 |
| Abstract : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| ESTHER : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedID: 2052566 |
| Title : A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features - Clerc_1991_Eur.J.Clin.Invest_21_616 |
| Author(s) : Clerc M , Dumon MF , Sess D , Freneix-Clerc M , Mackness M , Conri C |
| Ref : European Journal of Clinical Investigation , 21 :616 , 1991 |
| Abstract : Clerc_1991_Eur.J.Clin.Invest_21_616 |
| ESTHER : Clerc_1991_Eur.J.Clin.Invest_21_616 |
| PubMedSearch : Clerc_1991_Eur.J.Clin.Invest_21_616 |
| PubMedID: 1778223 |
| Title : Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease - Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| Author(s) : Bujo H , Kusunoki J , Ogasawara M , Yamamoto T , Ohta Y , Shimada T , Saito Y , Yoshida S |
| Ref : Biochemical & Biophysical Research Communications , 181 :933 , 1991 |
| Abstract : Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| ESTHER : Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| PubMedSearch : Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| PubMedID: 1662503 |
| 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 : Taramelli_1990_Hum.Genet_85_195 |
| ESTHER : Taramelli_1990_Hum.Genet_85_195 |
| PubMedSearch : Taramelli_1990_Hum.Genet_85_195 |
| PubMedID: 2370048 |
| Gene_locus related to this paper: human-LCAT |
| Title : A new case of familial lecithin: cholesterol acyltransferase (LCAT) deficiency--paradoxical findings regarding LCAT mass and activity in 23 members of a family - Takata_1989_Jpn.J.Med_28_765 |
| Author(s) : Takata K , Kajiyama G , Horiuchi I , Watanabe T , Tokumo H , Hirata Y |
| Ref : Jpn J Med , 28 :765 , 1989 |
| Abstract : Takata_1989_Jpn.J.Med_28_765 |
| ESTHER : Takata_1989_Jpn.J.Med_28_765 |
| PubMedSearch : Takata_1989_Jpn.J.Med_28_765 |
| PubMedID: 2634146 |
| 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 : Holmquist_1987_Acta.Med.Scand_222_23 |
| ESTHER : Holmquist_1987_Acta.Med.Scand_222_23 |
| PubMedSearch : Holmquist_1987_Acta.Med.Scand_222_23 |
| PubMedID: 3630775 |
| 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 : Holmquist_1987_Acta.Med.Scand_222_15 |
| ESTHER : Holmquist_1987_Acta.Med.Scand_222_15 |
| PubMedSearch : Holmquist_1987_Acta.Med.Scand_222_15 |
| PubMedID: 3630774 |
| Gene_locus related to this paper: human-LCAT |
| Title : Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease - Carlson_1987_Acta.Med.Scand_222_345 |
| Author(s) : Carlson LA , Holmquist L , Assmann G |
| Ref : Acta Med Scand , 222 :345 , 1987 |
| Abstract : Carlson_1987_Acta.Med.Scand_222_345 |
| ESTHER : Carlson_1987_Acta.Med.Scand_222_345 |
| PubMedSearch : Carlson_1987_Acta.Med.Scand_222_345 |
| PubMedID: 3425387 |
| Title : Hypoalphalipoproteinemia resembling fish eye disease - Frohlich_1987_Acta.Med.Scand_221_291 |
| Author(s) : Frohlich J , Hoag G , McLeod R , Hayden M , Godin DV , Wadsworth LD , Critchley JD , Pritchard PH |
| Ref : Acta Med Scand , 221 :291 , 1987 |
| Abstract : Frohlich_1987_Acta.Med.Scand_221_291 |
| ESTHER : Frohlich_1987_Acta.Med.Scand_221_291 |
| PubMedSearch : Frohlich_1987_Acta.Med.Scand_221_291 |
| PubMedID: 3591467 |
| 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 : Carlson_1985_Acta.Med.Scand_218_189 |
| ESTHER : Carlson_1985_Acta.Med.Scand_218_189 |
| 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 : Carlson_1985_Acta.Med.Scand_218_197 |
| ESTHER : Carlson_1985_Acta.Med.Scand_218_197 |
| PubMedSearch : Carlson_1985_Acta.Med.Scand_218_197 |
| PubMedID: 4061123 |
| Gene_locus related to this paper: human-LCAT |
| Title : A new case of familial LCAT deficiency - Vergani_1983_Acta.Med.Scand_214_173 |
| Author(s) : Vergani C , Catapano AL , Roma P , Giudici G |
| Ref : Acta Med Scand , 214 :173 , 1983 |
| Abstract : Vergani_1983_Acta.Med.Scand_214_173 |
| ESTHER : Vergani_1983_Acta.Med.Scand_214_173 |
| PubMedSearch : Vergani_1983_Acta.Med.Scand_214_173 |
| PubMedID: 6624548 |
| 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 : Borysiewicz_1982_Q.J.Med_51_411 |
| ESTHER : Borysiewicz_1982_Q.J.Med_51_411 |
| PubMedSearch : Borysiewicz_1982_Q.J.Med_51_411 |
| PubMedID: 7156322 |
| Gene_locus related to this paper: human-LCAT |
| Title : Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency - Frohlich_1982_Am.J.Hum.Genet_34_65 |
| Author(s) : Frohlich J , Hon K , McLeod R |
| Ref : American Journal of Human Genetics , 34 :65 , 1982 |
| Abstract : Frohlich_1982_Am.J.Hum.Genet_34_65 |
| ESTHER : Frohlich_1982_Am.J.Hum.Genet_34_65 |
| PubMedSearch : Frohlich_1982_Am.J.Hum.Genet_34_65 |
| PubMedID: 6805319 |
| 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 : Carlson_1979_Lancet_2_922 |
| ESTHER : Carlson_1979_Lancet_2_922 |
| PubMedSearch : Carlson_1979_Lancet_2_922 |
| PubMedID: 91022 |
| Gene_locus related to this paper: human-LCAT |