Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy

Perilipin-1 is a lipid droplet coat protein predominantly expressed in adipocytes, where it inhibits basal and facilitates stimulated lipolysis. Loss-of-function mutations in PLIN1 were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4. We now...

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Gepubliceerd in:Diabetes
Hoofdauteurs: Kozusko, K, Tsang, VHM, Bottomley, W, Cho, YH, Gandotra, S, Mimmack, ML, Lim, K, Isaac, I, Patel, Satish, Saudek, V, O’Rahilly, S, Srinivasan, S, Greenfield, JR, Barroso, I, Campbell, LV, Savage, DB
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361744/
https://ncbi.nlm.nih.gov/pubmed/25114292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db14-0104
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