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

Laurence Salle-Teyssières | Zendy; Martine Auclair | Zendy; Faraj Terro | Zendy; Moemani | Zendy; Solaf M. Elsayed | Zendy; Ezzat Elsobky | Zendy; Mark Lathrop | Zendy; Marc Delépine | Zendy; Olivier Lascols | Zendy; Jacqueline Capeau | Zendy; Jocelyne Magré | Zendy; Corinne Vigouroux | Zendy

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

Author(s) -

Laurence Salle-Teyssières,

Martine Auclair,

Faraj Terro,

Moemani,

Solaf M. Elsayed,

Ezzat Elsobky,

Mark Lathrop,

Marc Delépine,

Olivier Lascols,

Jacqueline Capeau,

Jocelyne Magré,

Corinne Vigouroux

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-1086

Subject(s) - lipodystrophy , biology , autophagy , microbiology and biotechnology , insulin resistance , caveolae , gene knockdown , small interfering rna , gene silencing , atg5 , lipid droplet , adipocyte , medicine , endocrinology , adipose tissue , insulin , signal transduction , genetics , rna , cell culture , gene , apoptosis , virus , viral load , antiretroviral therapy

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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