Literature DB >> 19379689

VMA21 deficiency: a case of myocyte indigestion.

Michio Hirano1, Salvatore DiMauro.   

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.

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Year:  2009        PMID： 19379689      PMCID： PMC2731491          DOI： 10.1016/j.cell.2009.04.005

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  9 in total

1.  Bafilomycin A1 inhibits chloroquine-induced death of cerebellar granule neurons.

Authors:  John J Shacka; Barbara J Klocke; Masahiro Shibata; Yasuo Uchiyama; Geeta Datta; Robert E Schmidt; Kevin A Roth
Journal:  Mol Pharmacol       Date:  2006-01-03       Impact factor: 4.436

Review 2.  Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology.

Authors:  Michael Forgac
Journal:  Nat Rev Mol Cell Biol       Date:  2007-11       Impact factor: 94.444

Review 3.  Autophagy fights disease through cellular self-digestion.

Authors:  Noboru Mizushima; Beth Levine; Ana Maria Cuervo; Daniel J Klionsky
Journal:  Nature       Date:  2008-02-28       Impact factor: 49.962

4.  Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Authors:  I Nishino; J Fu; K Tanji; T Yamada; S Shimojo; T Koori; M Mora; J E Riggs; S J Oh; Y Koga; C M Sue; A Yamamoto; N Murakami; S Shanske; E Byrne; E Bonilla; I Nonaka; S DiMauro; M Hirano
Journal:  Nature       Date:  2000-08-24       Impact factor: 49.962

5.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

6.  VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.

Authors:  Nivetha Ramachandran; Iulia Munteanu; Peixiang Wang; Pauline Aubourg; Jennifer J Rilstone; Nyrie Israelian; Taline Naranian; Paul Paroutis; Ray Guo; Zhi-Ping Ren; Ichizo Nishino; Brigitte Chabrol; Jean-Francois Pellissier; Carlo Minetti; Bjarne Udd; Michel Fardeau; Chetankumar S Tailor; Don J Mahuran; John T Kissel; Hannu Kalimo; Nicolas Levy; Morris F Manolson; Cameron A Ackerley; Berge A Minassian
Journal:  Cell       Date:  2009-04-17       Impact factor: 41.582

7.  X-linked myopathy with excessive autophagy: a new hereditary muscle disease.

Authors:  H Kalimo; M L Savontaus; H Lang; L Paljärvi; V Sonninen; P B Dean; K Katevuo; A Salminen
Journal:  Ann Neurol       Date:  1988-03       Impact factor: 10.422

8.  Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Authors:  F E Karet; K E Finberg; R D Nelson; A Nayir; H Mocan; S A Sanjad; J Rodriguez-Soriano; F Santos; C W Cremers; A Di Pietro; B I Hoffbrand; J Winiarski; A Bakkaloglu; S Ozen; R Dusunsel; P Goodyer; S A Hulton; D K Wu; A B Skvorak; C C Morton; M J Cunningham; V Jha; R P Lifton
Journal:  Nat Genet       Date:  1999-01       Impact factor: 38.330

9.  Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

Authors:  A Frattini; P J Orchard; C Sobacchi; S Giliani; M Abinun; J P Mattsson; D J Keeling; A K Andersson; P Wallbrandt; L Zecca; L D Notarangelo; P Vezzoni; A Villa
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330
  9 in total
  2 in total

1.  Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers.

Authors:  Anna Nogalska; Carla D'Agostino; Chiara Terracciano; W King Engel; Valerie Askanas
Journal:  Am J Pathol       Date:  2010-07-08       Impact factor: 4.307

Review 2.  Novel therapeutic approaches for inclusion body myositis.

Authors:  Thomas E Lloyd
Journal:  Curr Opin Rheumatol       Date:  2010-11       Impact factor: 5.006
  2 in total

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