VMA21

Summary

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
Species: human

Top Publications

  1. pmc Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers
    Anna 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
  2. doi Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy
    Iulia Munteanu
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada
    Neuromuscul Disord 27:185-187. 2017
  3. doi No cardiomyopathy in X-linked myopathy with excessive autophagy
    Antti 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
  4. doi Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy
    Sandra Mercier
    Service de Genetique Medicale, Hôpital Mre Enfant, CHU de Nantes, Nantes, France
    Muscle Nerve 52:673-80. 2015
  5. doi Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy
    A 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
  6. doi X-linked myopathy with excessive autophagy: a failure of self-eating
    James 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
  7. pmc Autophagic vacuolar pathology in desminopathies
    Conrad 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
  8. pmc Tubulin- and actin-associating GIMAP4 is required for IFN-γ secretion during Th cell differentiation
    Mirkka 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
  9. pmc Late adult-onset of X-linked myopathy with excessive autophagy
    Cameron 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
  10. doi Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
    Takashi 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

Research Grants

Scientific Experts

  • CONRAD WEIHL
  • James J Dowling
  • Michio Hirano
  • Ichizo Nishino
  • Nivetha Ramachandran
  • Iulia Munteanu
  • Berge A Minassian
  • Hannu Kalimo
  • Bjarne Udd
  • Antti Saraste
  • A Ruggieri
  • Sandra Mercier
  • Mirkka T Heinonen
  • Cameron D Crockett
  • Alessandra Ruggieri
  • Takashi Kurashige
  • Paul Paroutis
  • Morris F Manolson
  • Don J Mahuran
  • Chetankumar S Tailor
  • Nyrie Israelian
  • Gregory C Finnigan
  • Nicolas Levy
  • Carlo Minetti
  • Jean Francois Pellissier
  • Ray Guo
  • John T Kissel
  • Cameron A Ackerley
  • Taline Naranian
  • Zhi Ping Ren
  • Jennifer J Rilstone
  • Peixiang Wang
  • Brigitte Chabrol
  • Michel Fardeau
  • Anna Nogalska
  • Ikuya Nonaka
  • B A Minassian
  • Leah M Welsh
  • Kazuma Sugie
  • P Blumbergs
  • C Kneebone
  • Sini Penttilä
  • Jean Marie Mussini
  • I Moroni
  • E Haan
  • P Wang
  • Yann Pereon
  • Riitta Lahesmaa
  • Juhani Airaksinen
  • J Manavis
  • Sanna Huovinen
  • Anne Vital
  • Tiina A Henttinen
  • Kartiek Kanduri
  • Juha W Koskenvuo
  • Bertrand Isidor
  • Armelle Magot
  • Albert David
  • Xavier Ferrer
  • Florence Caillon
  • N Ramachandran
  • M Mora
  • L Morandi
  • Harri J Lähdesmäki
  • Michelle Coquet
  • Christopher M Zallek
  • Meena Gujrati
  • Steven A Moore
  • Takeshi Nakamura
  • Yoshito Nagano
  • Tetsuya Takahashi
  • Keita Kondo
  • Yukiko K Hayashi
  • Masayasu Matsumoto
  • Takemori Yamawaki
  • Yu Yamazaki
  • Rie Tsuburaya
  • Margret Ryan
  • Tom H Stevens
  • W King Engel
  • Carla D'Agostino
  • L Villard
  • Valerie Askanas
  • M Auranen
  • Chiara Terracciano
  • K J Hill
  • Pauline Aubourg
  • Amy Hin Yan Tong
  • Ole N Jensen
  • L A Graham

Detail Information

Publications23

  1. pmc Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers
    Anna 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...
  2. doi Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy
    Iulia Munteanu
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada
    Neuromuscul Disord 27:185-187. 2017
    X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease...
  3. doi No cardiomyopathy in X-linked myopathy with excessive autophagy
    Antti 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...
  4. doi Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy
    Sandra Mercier
    Service de Genetique Medicale, Hôpital Mre Enfant, CHU de Nantes, Nantes, France
    Muscle Nerve 52:673-80. 2015
    X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene.
  5. doi Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy
    A 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...
  6. doi X-linked myopathy with excessive autophagy: a failure of self-eating
    James 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...
  7. pmc Autophagic vacuolar pathology in desminopathies
    Conrad 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...
  8. pmc Tubulin- and actin-associating GIMAP4 is required for IFN-γ secretion during Th cell differentiation
    Mirkka 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(+)..
  9. pmc Late adult-onset of X-linked myopathy with excessive autophagy
    Cameron 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 ..
  10. doi Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
    Takashi 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...
  11. doi VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
    Nivetha 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 ..
  12. pmc A genome-wide enhancer screen implicates sphingolipid composition in vacuolar ATPase function in Saccharomyces cerevisiae
    Gregory 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 ..
  13. pmc Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq
    P 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...
  14. ncbi [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...
  15. doi VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification
    Nivetha 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 ..
  16. pmc VMA21 deficiency: a case of myocyte indigestion
    Michio 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.
  17. ncbi Genetic and molecular interactions of the Erv41p-Erv46p complex involved in transport between the endoplasmic reticulum and Golgi complex
    Leah 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...
  18. ncbi Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies
    Kazuma 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...
  19. ncbi X-linked vacuolar myopathies: two separate loci and refined genetic mapping
    M 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...
  20. ncbi Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
    L Villard
    INSERM U491, Universite de la Mediterrannee, Faculté de médecine La Timone, Marseille, France
    Eur J Hum Genet 8:125-9. 2000
    X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy...
  21. pmc Assembly of the yeast vacuolar H+-ATPase occurs in the endoplasmic reticulum and requires a Vma12p/Vma22p assembly complex
    L A Graham
    Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403, USA
    J Cell Biol 142:39-49. 1998
    Three previously identified genes from Saccharomyces cerevisiae, VMA12, VMA21, and VMA22, encode proteins localized to the endoplasmic reticulum (ER)...
  22. ncbi Isolation of vacuolar membrane H(+)-ATPase-deficient yeast mutants; the VMA5 and VMA4 genes are essential for assembly and activity of the vacuolar H(+)-ATPase
    M 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...
  23. pmc 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 complex
    K 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...

Research Grants2

  1. Pathogenesis of a Novel Limb-Girdle Muscular Dystrophy
    Michio 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. ..