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Start Over Author "Ray Guo" Publisher elsevier inc.
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4. RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

Author

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

Subjects
Vacuolar Proton-Translocating ATPases, Saccharomyces cerevisiae Proteins, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Muscular Diseases, Genes, X-Linked, Autophagy, medicine, Humans, V-ATPase, RNA, Messenger, Myopathy, PI3K/AKT/mTOR pathway, 030304 developmental biology, 0303 health sciences, Biochemistry, Genetics and Molecular Biology(all), Membrane Proteins, Skeletal muscle, medicine.disease, Cell biology, medicine.anatomical_structure, Cytoplasm, Chaperone (protein), biology.protein, medicine.symptom, Lysosomes, 030217 neurology & neurosurgery
Abstract

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 it is an essential assembly chaperone of the V-ATPase, the principal mammalian proton pump complex. Decreased VMA21 raises lysosomal pH, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which upregulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell. Our results uncover macroautophagic overcompensation leading to cell vacuolation and tissue atrophy as a mechanism of disease.

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5. Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

Author

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

Subjects
medicine.anatomical_structure, Notice, Biochemistry, Genetics and Molecular Biology(all), Cell, Autophagy, medicine, V-ATPase, medicine.symptom, Biology, Myopathy, General Biochemistry, Genetics and Molecular Biology, Cell biology
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