VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

doi:10.1007/s00401-012-1073-6

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Article

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Acta neuropathologica - 1 Mar 2013

Ramachandran Nivetha, Munteanu Iulia, Wang Peixiang, Ruggieri Alessandra, Rilstone Jennifer J, Israelian Nyrie, Naranian Taline, Paroutis Paul, Guo Ray, Ren Zhi-Ping, Nishino Ichizo, Chabrol Brigitte, Pellissier Jean-Francois, Minetti Carlo, Udd Bjarne, Fardeau Michel, Tailor Chetankumar S, Mahuran Don J, Kissel John T, Kalimo Hannu, Levy Nicolas, Manolson Morris F, Ackerley Cameron A, Minassian Berge A

Abstract excerpt

X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p, VMA21 is an essential assembly chaperone of the vacuolar ATPase (V-ATPase), the principal mammalian...

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PMID: 23315026
DOI: 10.1007/s00401-012-1073-6

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VMA21

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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