Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations-Reference-Cited by-同舟云学术

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Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Published:2017-01 Issue: Volume:113 Page:139-151
ISSN:1046-2023
Container-title:Methods
language:en
Short-container-title:Methods

Author:

Oprescu Stephanie N.,Griffin Laurie B.,Beg Asim A.,Antonellis Anthony

Funder

NIH

NIH Medical Scientist Training Grant

Muscular Dystrophy Association

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology,Molecular Biology

Reference116 articles.

1. The role of aminoacyl-tRNA synthetases in genetic diseases;Antonellis;Annu. Rev. Genomics Hum. Genet.,2008

2. Aminoacylating urzymes challenge the RNA world hypothesis;Li;J. Biol. Chem.,2013

3. Leukoencephalopathy with thalamus and brainstem involvement and high lactate “LTBL” caused by EARS2 mutations;Steenweg;Brain,2012

4. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation;Scheper;Nat. Genet.,2007

5. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy;Elo;Hum. Mol. Genet.,2012

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