GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

Aminoacyl-tRNA synthetase deficiencies in search of common themes

(2018) Sabine A. Fuchs et al.   GENETICS IN MEDICINE

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

(2018) Zhongying Mo et al.   Nature Communications

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

(2018) Hannah K Shorrock et al.   BRAIN

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

(2017) Rebecca Meyer-Schuman et al.   HUMAN MOLECULAR GENETICS

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

(2017) Stephanie N. Oprescu et al.   HUMAN MUTATION

Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation

(2016) Erik Storkebaum   BIOESSAYS

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

(2015) Yi-Chu Liao et al.   PLoS One

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

(2014) Kristien Peeters et al.   BRAIN

Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

(2014) Laurie B. Griffin et al.   HUMAN MUTATION

Cocrystal Structures of Glycyl-tRNA Synthetase in Complex with tRNA Suggest Multiple Conformational States in Glycylation

(2014) Xiangjing Qin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Application of whole exome sequencing in undiagnosed inherited polyneuropathies

(2014) C. J. Klein et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Functional Substitution of a Eukaryotic Glycyl-tRNA Synthetase with an Evolutionarily Unrelated Bacterial Cognate Enzyme

(2014) Chin-I Chien et al.   PLoS One

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

(2014) Vincent Timmerman et al.   Genes

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS

(2012) Jamie M. Eskuri et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies

(2011) A. P. Drew et al.   CURRENT MOLECULAR MEDICINE

Non-5q spinal muscular atrophies: The alphanumeric soup thickens

(2011) B. T. Darras   NEUROLOGY

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

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

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics