Literature DB >> 17101916

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

P A James1, M Z Cader, F Muntoni, A-M Childs, Y J Crow, K Talbot.   

Abstract

We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.

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Year:  2006        PMID： 17101916     DOI： 10.1212/01.wnl.0000242619.52335.bc

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


  42 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.  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

3.  Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

Authors:  Kathryn H Morelli; Laurie B Griffin; Nettie K Pyne; Lindsay M Wallace; Allison M Fowler; Stephanie N Oprescu; Ryuichi Takase; Na Wei; Rebecca Meyer-Schuman; Dattatreya Mellacheruvu; Jacob O Kitzman; Samuel G Kocen; Timothy J Hines; Emily L Spaulding; James R Lupski; Alexey Nesvizhskii; Pedro Mancias; Ian J Butler; Xiang-Lei Yang; Ya-Ming Hou; Anthony Antonellis; Scott Q Harper; Robert W Burgess
Journal:  J Clin Invest       Date:  2019-12-02       Impact factor: 14.808

4.  Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.

Authors:  Weiwei He; Hui-Min Zhang; Yeeting E Chong; Min Guo; Alan G Marshall; Xiang-Lei Yang
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-07       Impact factor: 11.205

Review 5.  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

Review 6.  Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

Authors:  Na Wei; Qian Zhang; Xiang-Lei Yang
Journal:  J Biol Chem       Date:  2019-01-14       Impact factor: 5.157

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.  Dynamics of axonal mRNA transport and implications for peripheral nerve regeneration.

Authors:  Soonmoon Yoo; Erna A van Niekerk; Tanuja T Merianda; Jeffery L Twiss
Journal:  Exp Neurol       Date:  2009-08-20       Impact factor: 5.330

Review 9.  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

10.  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
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