A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
Published 2012 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 34, Issue 1, Pages 191-199
Publisher
Wiley
Online
2012-08-28
DOI
10.1002/humu.22210
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations
- (2012) Marjan E. Steenweg et al. BRAIN
- Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
- (2012) Vafa Bayat et al. PLOS BIOLOGY
- Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome
- (2011) Ruth Belostotsky et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
- (2011) Alexandra Götz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clan Genomics and the Complex Architecture of Human Disease
- (2011) James R. Lupski et al. CELL
- A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)
- (2011) Heather M. McLaughlin et al. HUMAN MUTATION
- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
- (2011) S. B. Pierce et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening
- (2011) W. He et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels
- (2011) William W. Motley et al. PLoS Genetics
- Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
- (2010) Lisa G. Riley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
- (2010) Philippe Latour et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
- (2010) Heather M. McLaughlin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
- (2009) L. G. Biesecker et al. GENOME RESEARCH
- Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate inDrosophilafeatures of human Charcot–Marie–Tooth neuropathy
- (2009) Erik Storkebaum et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases
- (2008) Anthony Antonellis et al. Annual Review of Genomics and Human Genetics
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started