Title : Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy - Jeru_2019_J.Clin.Endocrinol.Metab_104_6025 |
Author(s) : Jeru I , Vantyghem MC , Bismuth E , Cervera P , Barraud S , Auclair M , Vatier C , Lascols O , Savage DB , Vigouroux C |
Ref : J Clinical Endocrinology Metab , 104 :6025 , 2019 |
Abstract : |
PubMedSearch : Jeru_2019_J.Clin.Endocrinol.Metab_104_6025 |
PubMedID: 31504636 |
Title : Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5) - Gandotra_2011_J.Biol.Chem_286_34998 |
Author(s) : Gandotra S , Lim K , Girousse A , Saudek V , O'Rahilly S , Savage DB |
Ref : Journal of Biological Chemistry , 286 :34998 , 2011 |
Abstract : |
PubMedSearch : Gandotra_2011_J.Biol.Chem_286_34998 |
PubMedID: 21757733 |
Gene_locus related to this paper: human-ABHD5 |