PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

CONTEXT: PLIN1 encodes perilipin-1, which coats lipid droplets in adipocytes and is involved in droplet formation, triglyceride storage, and lipolysis. Rare PLIN1 frameshift variants that extend the translated protein have been described to cause lipodystrophy. OBJECTIVE: This work aimed to test whe...

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Detalles Bibliográficos
Autores principales: Patel, Kashyap A, Burman, Shivang, Laver, Thomas W, Hattersley, Andrew T, Frayling, Timothy M, Weedon, Michael N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Online Only Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113801/
https://www.ncbi.nlm.nih.gov/pubmed/35235652
http://dx.doi.org/10.1210/clinem/dgac104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113801/
https://www.ncbi.nlm.nih.gov/pubmed/35235652
http://dx.doi.org/10.1210/clinem/dgac104

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