Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening

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

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Update on Charcot-Marie-Tooth Disease

(2010) Ágnes Patzkó et al.   Current Neurology and Neuroscience Reports

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

(2010) Morgane Stum et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

New functions of aminoacyl-tRNA synthetases beyond translation

(2010) Min Guo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Determination of amide hydrogen exchange by mass spectrometry: A new tool for protein structure elucidation

(2010) Zhongqi Zhang et al.   PROTEIN SCIENCE

GARS axonopathy: not every neuron's cup of tRNA

(2010) William W. Motley et al.   TRENDS IN NEUROSCIENCES

Aminoacyl-tRNA Synthesis and Translational Quality Control

(2009) Jiqiang Ling et al.   Annual Review of Microbiology

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

(2009) F. Achilli et al.   Disease Models & Mechanisms

Functional expansion of human tRNA synthetases achieved by structural inventions

(2009) Min Guo et al.   FEBS LETTERS

The GARS gene is rarely mutated in Japanese patients with Charcot–Marie–Tooth neuropathy

(2009) Akiko Abe et al.   JOURNAL OF HUMAN GENETICS

Orthogonal use of a human tRNA synthetase active site to achieve multifunctionality

(2009) Quansheng Zhou et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients

(2009) K. S. Gajiwala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enhanced Digestion Efficiency, Peptide Ionization Efficiency, and Sequence Resolution for Protein Hydrogen/Deuterium Exchange Monitored by Fourier Transform Ion Cyclotron Resonance Mass Spectrometry

(2008) Hui-Min Zhang et al.   ANALYTICAL CHEMISTRY

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

(2008) N. Barisic et al.   ANNALS OF HUMAN GENETICS