Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy

Mutations in the BSCL2 gene underlie human type 2 Berardinelli-Seip congenital lipodystrophy (BSCL2) disease. Global Bscl2(–/–) mice recapitulate human BSCL2 lipodystrophy and results in the development of insulin resistance and hypertrophic cardiomyopathy. The pathological mechanisms underlying the...

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Publicat a:JCI Insight
Autors principals: Zhou, Hongyi, Lei, Xinnuo, Yan, Yun, Lydic, Todd, Li, Jie, Weintraub, Neal L., Su, Huabo, Chen, Weiqin
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2019
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6675548/
https://ncbi.nlm.nih.gov/pubmed/31185001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.129781
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