Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Magda Cannata SerioLaurie A GrahamAngel AshikovLars Elmann LarsenKimiyo RaymondSharita TimalGwenn Le MeurMargret RyanElzbieta CzarnowskaJos C JansenMiao HeCan FiciciogluPavel PichurinLinda HasadsriBerge MinassianAlessandra RugierriHannu KalimoW Alfredo Ríos-OcampoChristian GilissenRichard J T RodenburgJohan W JonkerAdriaan G HolleboomEva MoravaJoris A VeltmanPiotr SochaTom H StevensMatias SimonsDirk J LefeberPublished in: Hepatology (Baltimore, Md.) (2021)
Together, our data suggest that impaired lipophagy, ER stress, and increased cholesterol synthesis lead to LD accumulation and hepatic steatosis. V-ATPase assembly defects are thus a form of hereditary liver disease with implications for the pathogenesis of nonalcoholic fatty liver disease.