VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.

Ramachandran, Nivetha; Munteanu, Iulia; Wang, Peixiang; Aubourg, Pauline; 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

Ramachandran, Nivetha; Munteanu, Iulia; Wang, Peixiang; Aubourg, Pauline; 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.

Affiliation

Ramachandran N; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

Cell ; 137(2): 235-46, 2009 Apr 17.

Article in En | MEDLINE | ID: mdl-19379691

Subject(s)

Genes, X-Linked; Muscular Diseases/genetics; Vacuolar Proton-Translocating ATPases/metabolism; Autophagy; Humans; Lysosomes/metabolism; Membrane Proteins/metabolism; RNA, Messenger/metabolism; Saccharomyces cerevisiae Proteins/metabolism; Vacuolar Proton-Translocating ATPases/genetics

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Full text: 1 Database: MEDLINE Main subject: Vacuolar Proton-Translocating ATPases / Genes, X-Linked / Muscular Diseases Type of study: Etiology_studies Limits: Humans Language: En Journal: Cell Year: 2009 Type: Article Affiliation country: Canada

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