Literature DB >> 8797538

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.

R W Taylor1, P F Chinnery, F Haldane, A A Morris, L A Bindoff, J Wilson, D M Turnbull.   

Abstract

We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analysis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.

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Year:  1996        PMID： 8797538     DOI： 10.1002/ana.410400318

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  16 in total

Review 1.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

2.  A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Authors:  Kurenai Tanji; Petra Kaufmann; Ali B Naini; Jiesheng Lu; Timothy C Parsons; Dong Wang; Joshua Z Willey; Sara Shanske; Michio Hirano; Eduardo Bonilla; Alexander Khandji; Salvatore Dimauro; Lewis P Rowland
Journal:  J Neurol Sci       Date:  2008-03-07       Impact factor: 3.181

Review 3.  Mitochondrial DNA mutations and pathogenesis.

Authors:  E A Schon; E Bonilla; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

Review 4.  Mitochondrial ribosome assembly in health and disease.

Authors:  Dasmanthie De Silva; Ya-Ting Tu; Alexey Amunts; Flavia Fontanesi; Antoni Barrientos
Journal:  Cell Cycle       Date:  2015-06-01       Impact factor: 4.534

Review 5.  Mitochondrial disease in childhood: mtDNA encoded.

Authors:  Russell P Saneto; Margret M Sedensky
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

6.  Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms.

Authors:  Siddhesh Aras; Neeraja Purandare; Stephanie Gladyck; Mallika Somayajulu-Nitu; Kezhong Zhang; Douglas C Wallace; Lawrence I Grossman
Journal:  Proc Natl Acad Sci U S A       Date:  2020-11-30       Impact factor: 11.205

Review 7.  Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.

Authors:  Gábor Zsurka; Wolfram S Kunz
Journal:  J Bioenerg Biomembr       Date:  2010-12       Impact factor: 2.945

8.  The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Authors:  Martine Uittenbogaard; Hao Wang; Victor Wei Zhang; Lee-Jun Wong; Christine A Brantner; Andrea Gropman; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2019-01-25       Impact factor: 4.797

9.  MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Authors:  M G Hanna; I P Nelson; J A Morgan-Hughes; N W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-10       Impact factor: 10.154

10.  Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Authors:  Rita Horváth; Andreas Bender; Angela Abicht; Elke Holinski-Feder; Birgit Czermin; Tobias Trips; Peter Schneiderat; Hanns Lochmüller; Thomas Klopstock
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849
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