VMA21 deficiency: a case of myocyte indigestion.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 19379689.
- Also identified by DOI 10.1016/j.cell.2009.04.005 and PMC identifier 2731491.
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Abstract
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.
Medical subject headings
- Muscular Diseases
- Vacuolar Proton-Translocating ATPases