Gene Symbol: VMA21
Description: VMA21, vacuolar ATPase assembly factor
Alias: MEAX, XMEA, vacuolar ATPase assembly integral membrane protein VMA21, VMA21 vacuolar H+-ATPase homolog, myopathy with excessive autophagy protein
- Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibersAnna Nogalska
USC Neuromuscular Center, Department of Neurology, University of Southern California Keck School of Medicine, Good Samaritan Hospital, Los Angeles, CA 90017 1912, USA
Am J Pathol 177:1377-87. 2010..D and B, increased levels of LC3-II, decreased phosphorylation of p70S6 kinase, and decreased expression of VMA21, a chaperone for assembly of lysosomal V-ATPase...
- Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagyIulia Munteanu
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada
Neuromuscul Disord 27:185-187. 2017X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease...
- No cardiomyopathy in X-linked myopathy with excessive autophagyAntti Saraste
Heart Center, Turku University Hospital and University of Turku, Turku FI 20520, Finland PET Centre, Turku University Hospital and University of Turku, Finland
Neuromuscul Disord 25:485-7. 2015..resulting from hypofunction of the proton pump vacuolar ATPase (V-ATPase), due to hypomorphic mutations in VMA21, whose protein product assembles V-ATPase. To what extent the cardiac muscle is affected is unknown...
- Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagySandra Mercier
Service de Genetique Medicale, Hôpital Mre Enfant, CHU de Nantes, Nantes, France
Muscle Nerve 52:673-80. 2015X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene.
- Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagyA Ruggieri
Neuromuscular Disease and Immunology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy Department of Paediatrics Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, Canada
Neuromuscul Disord 25:207-11. 2015..It is caused by mutations in VMA21 whose protein product assembles lysosomes' proton pumps...
- X-linked myopathy with excessive autophagy: a failure of self-eatingJames J Dowling
Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada
Acta Neuropathol 129:383-90. 2015..The autophagic vacuoles have sarcolemmal features. Mutations in the VMA21 gene at Xq28 cause XMEA by reducing the activity of lysosomal hydrolases...
- Autophagic vacuolar pathology in desminopathiesConrad C Weihl
Department of Neurology and Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO, USA Electronic address
Neuromuscul Disord 25:199-206. 2015..Danon's disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA) due to mutations in VMA21. Disruptions of these proteins lead to lysosomal dysfunction and subsequent autophagic vacuolar pathology...
- Tubulin- and actin-associating GIMAP4 is required for IFN-γ secretion during Th cell differentiationMirkka T Heinonen
1 Division of Genetics and Physiology, Department of Biology, Laboratory of Animal Physiology, University of Turku, Turku, Finland 2 Turku Centre for Biotechnology, University of Turku and Abo Akademi University, Turku, Finland 3 Turku Doctoral Programme of Molecular Medicine, TuDMM and Turku Doctoral Programme of Biomedical Sciences, TuBS Turku, Finland
Immunol Cell Biol 93:158-66. 2015..that depletion of GIMAP4 with RNAi results in downregulation of endoplasmic reticulum localizing chaperone VMA21. Most importantly, we discovered that GIMAP4 regulates secretion of cytokines in early differentiating human CD4(+)..
- Late adult-onset of X-linked myopathy with excessive autophagyCameron D Crockett
Department of Pathology, University of Iowa Carver College of Medicine, Room 5239B, RCP, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA
Muscle Nerve 50:138-44. 2014..Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 ..
- Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagyTakashi Kurashige
Department of Clinical Neuroscience and Therapeutics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan Electronic address
Neuromuscul Disord 23:911-6. 2013..164-7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings...
- VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada
Acta Neuropathol 125:439-57. 2013..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 ..
- A genome-wide enhancer screen implicates sphingolipid composition in vacuolar ATPase function in Saccharomyces cerevisiaeGregory C Finnigan
Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403, USA
Genetics 187:771-83. 2011..genome-wide enhancer screen in the budding yeast Saccharomyces cerevisiae with two mutant assembly factor alleles, VMA21 with a dysfunctional ER retrieval motif (vma21QQ) and vma21QQ in combination with voa1Δ, a nonessential assembly ..
- Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal XqP Saviranta
Department of Biology, University of Turku, Finland
Am J Hum Genet 42:84-8. 1988..suffering from a recently described hereditary muscle disease named X-linked myopathy with excessive autophagy (XMEA). Significant lod scores excluding linkage to the Duchenne-Becker muscular dystrophy locus were found...
- [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]Ichizo Nishino
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
Rinsho Shinkeigaku 50:1-6. 2010..Other AVSF myopathies include X-linked myopathy with excessive autophagy which is now known to be caused by VMA21 mutations...
- VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Cell 137:235-46. 2009..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 ..
- VMA21 deficiency: a case of myocyte indigestionMichio Hirano
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Cell 137:213-5. 2009..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.
- Genetic and molecular interactions of the Erv41p-Erv46p complex involved in transport between the endoplasmic reticulum and Golgi complexLeah M Welsh
Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA
J Cell Sci 119:4730-40. 2006..We identified synthetic interactions with vma12, vma21, vma22 and vps1 deletion mutations...
- Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathiesKazuma Sugie
Department of Neuromuscular Research, National Institute of Neuroscience, National Hospital for Mental Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
J Neuropathol Exp Neurol 64:513-22. 2005..In conclusion, AVSF with acetylcholinesterase activity are autolysosomes surrounded by secondarily generated intracytoplasmic sarcolemma-like structure and delineates a subgroup of AVMs...
- X-linked vacuolar myopathies: two separate loci and refined genetic mappingM Auranen
National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland
Ann Neurol 47:666-9. 2000..and mental retardation (XVCM-MR) and a second form, termed X-linked myopathy with excessive autophagy (XMEA), that spares cardiac muscle and has no central nervous system involvement...
- Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard
INSERM U491, Universite de la Mediterrannee, Faculté de médecine La Timone, Marseille, France
Eur J Hum Genet 8:125-9. 2000X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy...
- Assembly of the yeast vacuolar H+-ATPase occurs in the endoplasmic reticulum and requires a Vma12p/Vma22p assembly complexL A Graham
Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403, USA
J Cell Biol 142:39-49. 1998Three previously identified genes from Saccharomyces cerevisiae, VMA12, VMA21, and VMA22, encode proteins localized to the endoplasmic reticulum (ER)...
- Isolation of vacuolar membrane H(+)-ATPase-deficient yeast mutants; the VMA5 and VMA4 genes are essential for assembly and activity of the vacuolar H(+)-ATPaseM N Ho
Institute of Molecular Biology, University of Oregon, Eugene 97403
J Biol Chem 268:221-7. 1993..Representatives in five complementation groups were identified, including four novel mutant vma5, vma21, vma22, and vma23, all of which were defective in vacuolar ATPase enzyme activity...
- Vma21p is a yeast membrane protein retained in the endoplasmic reticulum by a di-lysine motif and is required for the assembly of the vacuolar H(+)-ATPase complexK J Hill
Institute of Molecular Biology, University of Oregon, Eugene 97403 1229
Mol Biol Cell 5:1039-50. 1994..The yeast vma21 mutant was isolated from a screen to identify mutants defective in V-ATPase function...
- Pathogenesis of a Novel Limb-Girdle Muscular DystrophyMichio Hirano; Fiscal Year: 2003..For the patients, achieving the proposed goals will allow more accurate prenatal diagnosis, genetic counseling, and perhaps contribute to more rational therapies in the future. ..