Literature DB >> 24354524

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.

Y S Hyun1, H J Park, S-H Heo, B R Yoon, S H Nam, S-B Kim, C I Park, B-O Choi, K W Chung.   

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Year:  2013        PMID： 24354524     DOI： 10.1111/cge.12327

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  25 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.  Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.

Authors:  Yu Sun; Guorui Hu; Jihang Luo; Di Fang; Yongguo Yu; Xiang Wang; Jing Chen; Wenjuan Qiu
Journal:  J Hum Genet       Date:  2017-02-02       Impact factor: 3.172

3.  MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Authors:  Jonathan Rips; Rebecca Meyer-Schuman; Oded Breuer; Reuven Tsabari; Avraham Shaag; Shoshana Revel-Vilk; Shimon Reif; Orly Elpeleg; Anthony Antonellis; Tamar Harel
Journal:  Eur J Med Genet       Date:  2018-04-12       Impact factor: 2.708

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.  Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

Authors:  Jamie A Abbott; Rebecca Meyer-Schuman; Vincenzo Lupo; Shawna Feely; Inès Mademan; Stephanie N Oprescu; Laurie B Griffin; M Antonia Alberti; Carlos Casasnovas; Sharon Aharoni; Lina Basel-Vanagaite; Stephan Züchner; Peter De Jonghe; Jonathan Baets; Michael E Shy; Carmen Espinós; Borries Demeler; Anthony Antonellis; Christopher Francklyn
Journal:  Hum Mutat       Date:  2017-12-26       Impact factor: 4.878

Review 6.  Human aminoacyl-tRNA synthetases in diseases of the nervous system.

Authors:  Jana Ognjenović; Miljan Simonović
Journal:  RNA Biol       Date:  2017-06-30       Impact factor: 4.652

7.  Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.

Authors:  David Blocquel; Sheng Li; Na Wei; Herwin Daub; Mathew Sajish; Maria-Luise Erfurth; Grace Kooi; Jiadong Zhou; Ge Bai; Paul Schimmel; Albena Jordanova; Xiang-Lei Yang
Journal:  Nucleic Acids Res       Date:  2017-07-27       Impact factor: 16.971

8.  Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Authors:  Marisa I Mendes; Mariana Gutierrez Salazar; Kether Guerrero; Isabelle Thiffault; Gajja S Salomons; Laurence Gauquelin; Luan T Tran; Diane Forget; Marie-Soleil Gauthier; Quinten Waisfisz; Desiree E C Smith; Cas Simons; Marjo S van der Knaap; Iris Marquardt; Aida Lemes; Hanna Mierzewska; Bernhard Weschke; Wolfgang Koehler; Benoit Coulombe; Nicole I Wolf; Geneviève Bernard
Journal:  Am J Hum Genet       Date:  2018-03-22       Impact factor: 11.025

Review 9.  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

10.  CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Authors:  Biljana Ermanoska; William W Motley; Ricardo Leitão-Gonçalves; Bob Asselbergh; LaTasha H Lee; Peter De Rijk; Kristel Sleegers; Tinne Ooms; Tanja A Godenschwege; Vincent Timmerman; Kenneth H Fischbeck; Albena Jordanova
Journal:  Neurobiol Dis       Date:  2014-05-05       Impact factor: 5.996
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