Article
A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.
Journal of hepatology - 1 Nov 2023
Upadhyay Kapil K, Du Xiaomeng, Chen Yanhua, Buscher Brandon, Chen Vincent L, Oliveri Antonino, Zhao Raymond, Speliotes Elizabeth K, Brady Graham F
Abstract excerpt
BACKGROUND & AIMS: Non-alcoholic fatty liver disease (NAFLD), and its progressive form steatohepatitis (NASH), represent a genetically and phenotypically diverse entity for which there is no approved therapy, making it imperative to define the spectrum of pathways contributing to its pathogenesis. Rare variants in genes encoding nuclear envelope proteins cause lipodystrophy with early-onset NAFLD/NASH; we...
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