{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T14:07:15Z","timestamp":1784038035376,"version":"3.55.0"},"reference-count":47,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Hepatology"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:sec>\n            <jats:title>Background and Aims<\/jats:title>\n            <jats:p>Vacuolar H+\u2010ATP complex (V\u2010ATPase) is a multisubunit protein complex required for acidification of intracellular compartments. At least five different factors are known to be essential for its assembly in the endoplasmic reticulum (ER). Genetic defects in four of these V\u2010ATPase assembly factors show overlapping clinical features, including steatotic liver disease and mild hypercholesterolemia. An exception is the assembly factor vacuolar ATPase assembly integral membrane protein (VMA21), whose X\u2010linked mutations lead to autophagic myopathy.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Approach and Results<\/jats:title>\n            <jats:p>Here, we report pathogenic variants in <jats:italic toggle=\"yes\">VMA21<\/jats:italic> in male patients with abnormal protein glycosylation that result in mild cholestasis, chronic elevation of aminotransferases, elevation of (low\u2010density lipoprotein) cholesterol and steatosis in hepatocytes. We also show that the <jats:italic toggle=\"yes\">VMA21<\/jats:italic> variants lead to V\u2010ATPase misassembly and dysfunction. As a consequence, lysosomal acidification and degradation of phagocytosed materials are impaired, causing lipid droplet (LD) accumulation in autolysosomes. Moreover, VMA21 deficiency triggers ER stress and sequestration of unesterified cholesterol in lysosomes, thereby activating the sterol response element\u2010binding protein\u2013mediated cholesterol synthesis pathways.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Together, our data suggest that impaired lipophagy, ER stress, and increased cholesterol synthesis lead to LD accumulation and hepatic steatosis. V\u2010ATPase assembly defects are thus a form of hereditary liver disease with implications for the pathogenesis of nonalcoholic fatty liver disease.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1002\/hep.31218","type":"journal-article","created":{"date-parts":[[2020,3,7]],"date-time":"2020-03-07T21:46:45Z","timestamp":1583617605000},"page":"1968-1986","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":51,"title":["Mutations in the V\u2010ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease"],"prefix":"10.1097","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2084-3406","authenticated-orcid":false,"given":"Magda","family":"Cannata Serio","sequence":"first","affiliation":[{"name":"Laboratory of Epithelial Biology and Disease,Imagine Institute,Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9,Paris,France"},{"name":"RBIV RNA Biology of Influenza 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Medicine,Rochester,MN"},{"name":"Department of Chemistry and Biochemistry,Institute of Molecular Biology,University of Oregon,Eugene,OR"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[{"name":"Department of Pathology,The Children\u2019s Memorial Health Institute,Warsaw,Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharita","family":"Timal","sequence":"additional","affiliation":[{"name":"Department of Neurology,Donders Institute for Brain,Cognition and Behaviour,Radboud University Medical Center,Nijmegen,the Netherlands"},{"name":"Department of Laboratory Medicine,Translational Metabolic Laboratory,Radboud Institute for Molecular Life Sciences,Radboud University Medical Center,Nijmegen,the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwenn","family":"Le Meur","sequence":"additional","affiliation":[{"name":"Laboratory of Epithelial Biology and Disease,Imagine Institute,Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9,Paris,France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margret","family":"Ryan","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology,Translational Metabolic Laboratory,Radboud Institute for Molecular Life Sciences,Radboud University Medical Center,Nijmegen,the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elzbieta","family":"Czarnowska","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine,University of Pennsylvania,Perelman School of Medicine,Philadelphia,PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos C.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Division of Laboratory Medicine,The Children\u2019s Hospital of 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Brescia,Brescia,Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannu","family":"Kalimo","sequence":"additional","affiliation":[{"name":"Department of Pathology, Haartman Institute,University of Helsinki, FIN\u201300014,Helsinki,Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Alfredo","family":"R\u00edos\u2010Ocampo","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology,Mayo College of Medicine,Rochester,MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Gilissen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics,Mayo Clinic,Rochester,MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5227-3527","authenticated-orcid":false,"given":"Richard","family":"Rodenburg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics,Donders Centre for Neuroscience,Radboud University Medical Center,Nijmegen,the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan W.","family":"Jonker","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology,Mayo College of Medicine,Rochester,MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriaan G.","family":"Holleboom","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry,Institute of Molecular Biology,University of Oregon,Eugene,OR"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine,International Centre for Life,Newcastle University,Newcastle upon Tyne,United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris A.","family":"Veltman","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology,Feeding Disorders and Pediatrics,Children\u2019s Memorial Health Institute,Warsaw,Poland"},{"name":"Section of Molecular Metabolism and Nutrition,Department of Pediatrics,University of Groningen,University Medical Center Groningen,Groningen,the 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