Literature DB >> 16534118

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.

R Del Bo1, F Locatelli, S Corti, M Scarlato, S Ghezzi, A Prelle, G Fagiolari, M Moggio, M Carpo, N Bresolin, G P Comi.   

Abstract

An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.

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Year:  2006        PMID： 16534118     DOI： 10.1212/01.wnl.0000201275.18875.ac

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  33 in total

Review 1.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Authors:  Rebecca Meyer-Schuman; Anthony Antonellis
Journal:  Hum Mol Genet       Date:  2017-10-01       Impact factor: 6.150

2.  A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.

Authors:  S Ajroud-Driss; F Fecto; K Ajroud; Y Yang; S Donkervoort; N Siddique; T Siddique
Journal:  Neurogenetics       Date:  2009-04-07       Impact factor: 2.660

3.  Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.

Authors:  Ayumi Hamaguchi; Chiho Ishida; Kazuo Iwasa; Akiko Abe; Masahito Yamada
Journal:  J Neurol       Date:  2010-02-19       Impact factor: 4.849

Review 4.  Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Authors:  Stephanie N Oprescu; Laurie B Griffin; Asim A Beg; Anthony Antonellis
Journal:  Methods       Date:  2016-11-20       Impact factor: 3.608

5.  Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth disease.

Authors:  Wei Xie; Paul Schimmel; Xiang-Lei Yang
Journal:  Acta Crystallogr Sect F Struct Biol Cryst Commun       Date:  2006-11-30

6.  Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

Authors:  Anthony Antonellis; Shih-Queen Lee-Lin; Amy Wasterlain; Paul Leo; Martha Quezado; Lev G Goldfarb; Kyungjae Myung; Shawn Burgess; Kenneth H Fischbeck; Eric D Green
Journal:  J Neurosci       Date:  2006-10-11       Impact factor: 6.167

7.  Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.

Authors:  Gareth T Banks; Virginie Bros-Facer; Hazel P Williams; Ruth Chia; Francesca Achilli; J Barney Bryson; Linda Greensmith; Elizabeth M C Fisher
Journal:  PLoS One       Date:  2009-07-13       Impact factor: 3.240

Review 8.  RNA processing defects associated with diseases of the motor neuron.

Authors:  Stephen J Kolb; Scott Sutton; Daniel R Schoenberg
Journal:  Muscle Nerve       Date:  2010-01       Impact factor: 3.217

9.  Gain-of-function mutational activation of human tRNA synthetase procytokine.

Authors:  Xiang-Lei Yang; Mili Kapoor; Francella J Otero; Bonnie M Slike; Hiro Tsuruta; Ricardo Frausto; Alison Bates; Karla L Ewalt; David A Cheresh; Paul Schimmel
Journal:  Chem Biol       Date:  2007-12

10.  Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

Authors:  Leslie A Nangle; Wei Zhang; Wei Xie; Xiang-Lei Yang; Paul Schimmel
Journal:  Proc Natl Acad Sci U S A       Date:  2007-06-26       Impact factor: 11.205
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