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- W4386046053 abstract "Abstract MBOAT7 is a protein anchored to endomembranes by several transmembrane domains. It has a catalytic dyad involved in remodelling of phosphatidylinositol with polyunsaturated fatty acids. Genetic variants in the MBOAT7 gene have been associated with the entire spectrum of non‐alcoholic fatty liver (NAFLD), recently redefined as metabolic dysfunction‐associated fatty liver disease (MAFLD) and, lately, steatotic liver disease (SLD), and to an increasing number of extrahepatic conditions. In this review, we will (a) elucidate the molecular mechanisms by which MBOAT7 loss‐of‐function predisposes to MAFLD and neurodevelopmental disorders and (b) discuss the growing number of genetic studies linking MBOAT7 to hepatic and extrahepatic diseases. MBOAT7 complete loss of function causes severe changes in brain development resulting in several neurological manifestations. Lower MBOAT7 hepatic expression at both the mRNA and protein levels, due to missense nucleotide polymorphisms (SNPs) in the locus containing the MBOAT7 gene, affects specifically metabolic and viral diseases in the liver from simple steatosis to hepatocellular carcinoma, and potentially COVID‐19 disease. This body of evidence shows that phosphatidylinositol remodelling is a key factor for human health." @default.
- W4386046053 created "2023-08-23" @default.
- W4386046053 creator A5056644569 @default.
- W4386046053 creator A5070641717 @default.
- W4386046053 creator A5071926907 @default.
- W4386046053 date "2023-08-22" @default.
- W4386046053 modified "2023-10-18" @default.
- W4386046053 title "<scp>MBOAT7</scp> in liver and extrahepatic diseases" @default.
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