Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease
JHEP Reports（2023）
摘要
•A rare MTTP variant, p.I564T, leads to progressive fatty liver disease and cirrhosis.•Hepatocyte-like cells expressing MTP 564T have reduced liver lipoprotein secretion capability.•Reactive oxygen species, NF-κB pathway, and extracellular matrix remodelling drive lipotoxicity.
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关键词
Microsomal triglyceride transfer protein, Abetalipoproteinaemia, hiPSC-derived hepatocytes, Lipoprotein ApoB
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