Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
Author:
Affiliation:
1. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Funder
National Institute of General Medical Sciences
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/26/R2/R114/24338760/ddx231.pdf
Reference147 articles.
1. The role of aminoacyl-tRNA synthetases in genetic diseases;Antonellis;Annu. Rev. Genomics Hum. Genet,2008
2. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect;Simons;Am. J. Hum. Genet,2015
3. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy;Nakayama;Hum. Mutat,2017
4. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-tooth disease;Latour;Am. J. Hum. Genet,2010
5. A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N);McLaughlin;Hum. Mutat,2012
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