| Title : Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia - Bedoya_2024_J.Clin.Lipidol__ |
| Author(s) : Bedoya C , Thomas R , Bjarvin A , Ji W , Samara H , Tai J , Green L , Frost PH , Malloy MJ , Pullinger CR , Kane JP , Peterfy M |
| Ref : J Clin Lipidol , : , 2024 |
| Abstract : |
| PubMedSearch : Bedoya_2024_J.Clin.Lipidol__ |
| PubMedID: 39537501 |
| Title : Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia - Beigneux_2017_N.Engl.J.Med_376_1647 |
| Author(s) : Beigneux AP , Miyashita K , Ploug M , Blom DJ , Ai M , Linton MF , Khovidhunkit W , Dufour R , Garg A , McMahon MA , Pullinger CR , Sandoval NP , Hu X , Allan CM , Larsson M , Machida T , Murakami M , Reue K , Tontonoz P , Goldberg IJ , Moulin P , Charriere S , Fong LG , Nakajima K , Young SG |
| Ref : N Engl J Med , 376 :1647 , 2017 |
| Abstract : |
| PubMedSearch : Beigneux_2017_N.Engl.J.Med_376_1647 |
| PubMedID: 28402248 |
| Title : Identification and metabolic profiling of patients with lysosomal acid lipase deficiency - Pullinger_2015_J.Clin.Lipidol_9_716 |
| Author(s) : Pullinger CR , Stock EO , Movsesyan I , Malloy MJ , Frost PH , Tripuraneni R , Quinn AG , Ishida BY , Schaefer EJ , Asztalos BF , Kane JP |
| Ref : J Clin Lipidol , 9 :716 , 2015 |
| Abstract : |
| PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedID: 26350820 |
| Gene_locus related to this paper: human-LIPA |
| Title : Association of endothelial lipase Thr111Ile polymorphism with lipid metabolism and microvascular complications in type 2 diabetic patients - Durlach_2011_Diabetes.Metab_37_64 |
| Author(s) : Durlach V , Durlach A , Movesayan I , Socquard E , Zellner C , Clavel C , Nazeyrollas P , Malloy MJ , Pullinger CR , Kane JP , Ducasse A , Aouizerat BE |
| Ref : Diabetes Metab , 37 :64 , 2011 |
| Abstract : |
| PubMedSearch : Durlach_2011_Diabetes.Metab_37_64 |
| PubMedID: 21145773 |
| Gene_locus related to this paper: human-LIPG |
| Title : Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase - Beigneux_2011_J.Biol.Chem_286_19735 |
| Author(s) : Beigneux AP , Davies BS , Tat S , Chen J , Gin P , Voss CV , Weinstein MM , Bensadoun A , Pullinger CR , Fong LG , Young SG |
| Ref : Journal of Biological Chemistry , 286 :19735 , 2011 |
| Abstract : |
| PubMedSearch : Beigneux_2011_J.Biol.Chem_286_19735 |
| PubMedID: 21478160 |
| Title : Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia - Peterfy_2007_Nat.Genet_39_1483 |
| Author(s) : Peterfy M , Ben-Zeev O , Mao HZ , Weissglas-Volkov D , Aouizerat BE , Pullinger CR , Frost PH , Kane JP , Malloy MJ , Reue K , Pajukanta P , Doolittle MH |
| Ref : Nat Genet , 39 :1483 , 2007 |
| Abstract : |
| PubMedSearch : Peterfy_2007_Nat.Genet_39_1483 |
| PubMedID: 17994020 |