Literature DB >> 20169446

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

Ayumi Hamaguchi, Chiho Ishida, Kazuo Iwasa, Akiko Abe, Masahito Yamada.   

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Year:  2010        PMID： 20169446     DOI： 10.1007/s00415-010-5491-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Authors:  Kumaraswamy Sivakumar; Theodoros Kyriakides; Imke Puls; Garth A Nicholson; Benoît Funalot; Anthony Antonellis; Nyamkhishig Sambuughin; Kyproula Christodoulou; John L Beggs; Eleni Zamba-Papanicolaou; Victor Ionasescu; Marinos C Dalakas; Eric D Green; Kenneth H Fischbeck; Lev G Goldfarb
Journal:  Brain       Date:  2005-07-13       Impact factor: 13.501

2.  A statistical approach to fiber diameter distribution in human sural nerve.

Authors:  R L Schellens; B K van Veen; A A Gabreëls-Festen; S L Notermans; M A van 't Hof; D F Stegeman
Journal:  Muscle Nerve       Date:  1993-12       Impact factor: 3.217

3.  The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

Authors:  O Dubourg; H Azzedine; R Ben Yaou; J Pouget; A Barois; V Meininger; D Bouteiller; M Ruberg; A Brice; E LeGuern
Journal:  Neurology       Date:  2006-06-13       Impact factor: 9.910

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

Authors:  P A James; M Z Cader; F Muntoni; A-M Childs; Y J Crow; K Talbot
Journal:  Neurology       Date:  2006-11-14       Impact factor: 9.910

Review 5.  Glycyl-tRNA synthetase.

Authors:  W Freist; D T Logan; D H Gauss
Journal:  Biol Chem Hoppe Seyler       Date:  1996-06

6.  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

7.  Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Authors:  Anthony Antonellis; Rachel E Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoit Funalot; Jeffery M Vance; Lev G Goldfarb; Kenneth H Fischbeck; Eric D Green
Journal:  Am J Hum Genet       Date:  2003-04-10       Impact factor: 11.025

8.  The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.

Authors:  Akiko Abe; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2009-03-27       Impact factor: 3.172

9.  Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Authors:  Barbara Rohkamm; Mary M Reilly; Hanns Lochmüller; Beate Schlotter-Weigel; Nina Barisic; Ludger Schöls; Garth Nicholson; Davide Pareyson; Matilde Laurà; Andreas R Janecke; Gabriel Miltenberger-Miltenyi; Elisabeth John; Carina Fischer; Franz Grill; William Wakeling; Mary Davis; Thomas R Pieber; Michaela Auer-Grumbach
Journal:  J Neurol Sci       Date:  2007-07-30       Impact factor: 3.181

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

Authors:  R Del Bo; F Locatelli; S Corti; M Scarlato; S Ghezzi; A Prelle; G Fagiolari; M Moggio; M Carpo; N Bresolin; G P Comi
Journal:  Neurology       Date:  2006-03-14       Impact factor: 9.910
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  7 in total

1.  A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).

Authors:  Ah Jung Seo; Youn Ho Shin; Seo Jin Lee; Doyeun Kim; Byung Sun Park; Sunghoon Kim; Kyu Ha Choi; Na Young Jeong; Chan Park; Ji-Yeon Jang; Youngbuhm Huh; Junyang Jung
Journal:  J Mol Histol       Date:  2013-08-30       Impact factor: 2.611

2.  tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase.

Authors:  Amila Zuko; Moushami Mallik; Robin Thompson; Emily L Spaulding; Anne R Wienand; Marije Been; Abigail L D Tadenev; Nick van Bakel; Céline Sijlmans; Leonardo A Santos; Julia Bussmann; Marica Catinozzi; Sarada Das; Divita Kulshrestha; Robert W Burgess; Zoya Ignatova; Erik Storkebaum
Journal:  Science       Date:  2021-09-01       Impact factor: 63.714

3.  Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.

Authors:  James N Sleigh; John M Dawes; Steven J West; Na Wei; Emily L Spaulding; Adriana Gómez-Martín; Qian Zhang; Robert W Burgess; M Zameel Cader; Kevin Talbot; Xiang-Lei Yang; David L Bennett; Giampietro Schiavo
Journal:  Proc Natl Acad Sci U S A       Date:  2017-03-28       Impact factor: 11.205

4.  Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.

Authors:  Manish Datt; Amit Sharma
Journal:  BMC Genomics       Date:  2014-12-04       Impact factor: 3.969

5.  Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Authors:  Michael Nafisinia; Lisa G Riley; Wendy A Gold; Kaustuv Bhattacharya; Carolyn R Broderick; David R Thorburn; Cas Simons; John Christodoulou
Journal:  PLoS One       Date:  2017-06-08       Impact factor: 3.240

Review 6.  Aminoacyl-tRNA synthetases in medicine and disease.

Authors:  Peng Yao; Paul L Fox
Journal:  EMBO Mol Med       Date:  2013-02-21       Impact factor: 12.137

7.  Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

Authors:  Yi-Chu Liao; Yo-Tsen Liu; Pei-Chien Tsai; Chia-Ching Chang; Yen-Hua Huang; Bing-Wen Soong; Yi-Chung Lee
Journal:  PLoS One       Date:  2015-08-05       Impact factor: 3.240
  7 in total

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