- VMA21 deficiency: a case of myocyte indigestion.
VMA21 deficiency: a case of myocyte indigestion.
Cell (2009-04-22)
Michio Hirano, Salvatore DiMauro
PMID19379689
摘要
The Vma21p protein in yeast is an essential assembly chaperone for the vacuolar ATPase, the major proton pump of cellular membranes. In this issue, Ramachandran et al. (2009) report that mutations in the gene encoding the human homolog VMA21 cause the disease X-linked myopathy with excessive autophagy through an unexpected mechanism.