Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.

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Abstract

Mutations in PTRF encoding cavin-1 are responsible for congenital generalized lipodystrophy type 4 (CGL4) characterized by lipoatrophy, insulin resistance, dyslipidemia, and muscular dystrophy. Cavin-1 cooperates with caveolins to form the plasma membrane caveolae, which are involved in cellular trafficking and signalling and in lipid turnover.

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Author and article information

Journal

Journal ID (iso-abbrev): J Clin Endocrinol Metab

Title: The Journal of clinical endocrinology and metabolism

Publisher: The Endocrine Society

ISSN (Electronic): 1945-7197

ISSN (Print): 0021-972X

Publication date (Electronic): Jul 2016

Volume: 101

Issue: 7

Affiliations

[1 ] From Sorbonne Universités, UPMC Univ Paris 6, and Inserm UMR_S938, Centre de Recherche St-Antoine, F-75012, Paris, France (L.S.-T., M.A., M.N., O.L., J.C., C.V.); Institute of Cardiometabolism and Nutrition (L.S.-T., M.A., O.L., J.C., C.V.), Groupe Hospitalier La Pitié-Salpêtrière, F-75013 Paris, France; Service d'Histologie et de Biologie Cellulaire (F.T.), Faculté de Médecine-Université de Limoges; AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie (J.C.), F-75020, Paris, France; Medical Genetics Center, Cairo, Egypt (S.M.E., E.E.); McGill University and Génome Québec Innovation Centre, Montréal, Canada (M.L.); Commissariat à l'Energie Atomique/Institut de Génomique/Centre National de Génotypage (M.D.), Evry, France; AP-HP, Hôpital St-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, F-75012, Paris, France (O.L., C.V.); and Inserm UMR_S1087, L'Institut du Thorax (J.M.), F-44007 Nantes, France.

Article

DOI: 10.1210/jc.2016-1086

PubMed ID: 27144934

SO-VID: b5b18830-3243-47a7-8e6d-8031a50a92af

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