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Jana Ognjenovic et al.
RNA BIOLOGY (2018)
A Novel Multisystem Disease Associated with Recessive Mutations in the Tyrosyl-tRNA Synthetase (YARS) Gene
Malgorzata J. M. Nowaczyk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Neonatal encephalocardiomyopathy caused by mutations in VARS2
Fabian Baertling et al.
METABOLIC BRAIN DISEASE (2017)
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
Rebecca Meyer-Schuman et al.
HUMAN MOLECULAR GENETICS (2017)
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism
Xiao-Long Zhou et al.
HUMAN MUTATION (2017)
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
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HUMAN MUTATION (2017)
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability
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HUMAN MUTATION (2017)
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation
Stephanie N. Oprescu et al.
HUMAN MUTATION (2017)
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia
Yu Sun et al.
JOURNAL OF HUMAN GENETICS (2017)
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
Takeshi Mizuguchi et al.
JOURNAL OF HUMAN GENETICS (2017)
Two proteomic methodologies for defining N-termini of mature human mitochondrial aminoacyl-tRNA synthetases
Christine Carapito et al.
METHODS (2017)
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations
Stephanie N. Oprescu et al.
METHODS (2017)
Genetic heterogeneity of motor neuropathies
Boglarka Bansagi et al.
NEUROLOGY (2017)
Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy
David Blocquel et al.
NUCLEIC ACIDS RESEARCH (2017)
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations
James N. Sleigh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Recent Advances in Mitochondrial Aminoacyl-tRNA Synthetases and Disease
Marie Sissler et al.
TRENDS IN MOLECULAR MEDICINE (2017)
Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis
James N. Sleigh et al.
SCIENTIFIC REPORTS (2017)
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy
Benjamin E. Theisen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay
N. Orenstein et al.
CLINICAL GENETICS (2017)
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
D. Verrigni et al.
CLINICAL GENETICS (2017)
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Pei-Chien Tsai et al.
BRAIN (2017)
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
Shahida Moosa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Robert Kopajtich et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation
Erik Storkebaum
BIOESSAYS (2016)
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease
Nikos Malissovas et al.
HUMAN MOLECULAR GENETICS (2016)
Suppression of lysyl-tRNA synthetase, KRS, causes incomplete epithelial-mesenchymal transition and ineffective cell-extracellular matrix adhesion for migration
Seo Hee Nam et al.
INTERNATIONAL JOURNAL OF ONCOLOGY (2016)
Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d
Emily L. Spaulding et al.
JOURNAL OF NEUROSCIENCE (2016)
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings
Sevim Sahin et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2016)
Neddylation requires glycyl-tRNA synthetase to protect activated E2
Zhongying Mo et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum
S. Luehl et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Neddylation requires glycyl-tRNA synthetase to protect activated E2
Zhongying Mo et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)
Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions
Preeti Bais et al.
Biology Open (2016)
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Cas Simons et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Dana Safka Brozkova et al.
BRAIN (2015)
Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology
Stuart J. Grice et al.
HUMAN MOLECULAR GENETICS (2015)
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss
Bryn D. Webb et al.
HUMAN MUTATION (2015)
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)
Arnaud V. Vanlander et al.
HUMAN MUTATION (2015)
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R. Coughlin et al.
JOURNAL OF MEDICAL GENETICS (2015)
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland
Boglarka Bansagi et al.
JOURNAL OF NEUROLOGY (2015)
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
Weiwei He et al.
NATURE (2015)
A novel therapeutic target for peripheral nerve injury-related diseases: aminoacyl-tRNA synthetases
Byung Sun Park et al.
NEURAL REGENERATION RESEARCH (2015)
A novel AARS mutation in a family with dominant myeloneuropathy
W. W. Motley et al.
NEUROLOGY (2015)
Prevalence of neurogenetic disorders in the North of England
David Bargiela et al.
NEUROLOGY (2015)
Cell-selective labelling of proteomes in Drosophila melanogaster
Ines Erdmann et al.
NATURE COMMUNICATIONS (2015)
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases
Sven Niehues et al.
NATURE COMMUNICATIONS (2015)
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Claudia Gonzaga-Jauregui et al.
CELL REPORTS (2015)
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
Mariella Simon et al.
PLOS GENETICS (2015)
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease
Hugh J. McMillan et al.
JOURNAL OF CHILD NEUROLOGY (2015)
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
Ramona Salvarinova et al.
NEUROGENETICS (2015)
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
Kalliopi Sofou et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2015)
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures
Xiaochang Zhang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Mutations in RARS Cause Hypomyelination
Nicole I. Wolf et al.
ANNALS OF NEUROLOGY (2014)
Glutamyl-tRNAGln amidotransferase is essential for mammalian. mitochondrial translation in vivo
Lucia Echevarria et al.
BIOCHEMICAL JOURNAL (2014)
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
Abdulraheem Almalki et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
Hugh J. McMillan et al.
BMC MEDICAL GENETICS (2014)
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy
Y. S. Hyun et al.
CLINICAL GENETICS (2014)
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in CharcotMarieTooth type 2D mice
James N. Sleigh et al.
HUMAN MOLECULAR GENETICS (2014)
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
Daria Diodato et al.
HUMAN MUTATION (2014)
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Robert W. Taylor et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila
Biljana Ermanoska et al.
NEUROBIOLOGY OF DISEASE (2014)
Novel (ovario) leukodystrophy related to AARS2 mutations
Cristina Dallabona et al.
NEUROLOGY (2014)
tRNA synthetase: tRNA aminoacylation and beyond
Yan Ling Joy Pang et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2014)
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Sarah B. Pierce et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Ryan J. Taft et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Regie Lyn P. Santos-Cortez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
Eline van Meel et al.
BMC MEDICAL GENETICS (2013)
A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
Aimee Vester et al.
HUMAN MUTATION (2013)
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
Michael Gonzalez et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)
Essential nontranslational functions of tRNA synthetases
Min Guo et al.
NATURE CHEMICAL BIOLOGY (2013)
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
Lisa G. Riley et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Interaction of two translational components, lysyl-tRNA synthetase and p40/37LRP, in plasma membrane promotes laminin-dependent cell migration
Dae Gyu Kim et al.
FASEB JOURNAL (2012)
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
Jenni M. Elo et al.
HUMAN MOLECULAR GENETICS (2012)
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)
Heather M. McLaughlin et al.
HUMAN MUTATION (2012)
Dual Role for Motif 1 Residues of Human Lysyl-tRNA Synthetase in Dimerization and Packaging into HIV-1
Varun Dewan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy
Z. Zhao et al.
NEUROLOGY (2012)
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Erik G. Puffenberger et al.
PLOS ONE (2012)
Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis
Min Chul Park et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
Vafa Bayat et al.
PLOS BIOLOGY (2012)
Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome
Ruth Belostotsky et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Dominant Intermediate Charcot-Marie-Tooth Disorder Is Not Due to a Catalytic Defect in Tyrosyl-tRNA Synthetase
Clifford A. Froelich et al.
BIOCHEMISTRY (2011)
A novel homozygous mutation of DARS2 may cause a severe LBSL variant
N. Miyake et al.
CLINICAL GENETICS (2011)
Patterned Purkinje cell loss in the ataxic sticky mouse
Justyna R. Sarna et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2011)
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations
Morgane Stum et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2011)
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
Sarah B. Pierce et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Npn-1 Contributes to Axon-Axon Interactions That Differentially Control Sensory and Motor Innervation of the Limb
Rosa-Eva Huettl et al.
PLOS BIOLOGY (2011)
Charcot-Marie-Tooth-Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels
William W. Motley et al.
PLOS GENETICS (2011)
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome
Lisa G. Riley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
Philippe Latour et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
Heather M. McLaughlin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
A proteomic approach based on multiple parallel separation for the unambiguous identification of an antibody cognate antigen
Joohee Mun et al.
ELECTROPHORESIS (2010)
New functions of aminoacyl-tRNA synthetases beyond translation
Min Guo et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)
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
Francesca Achilli et al.
DISEASE MODELS & MECHANISMS (2009)
Diagnosis of Charcot-Marie-Tooth Disease
Isabel Banchs et al.
JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (2009)
Unique protein architecture of alanyl-tRNA synthetase for aminoacylation, editing, and dimerization
Masahiro Naganuma et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Lysyl-tRNA synthetase is a target for mutant SOD1 toxicity in mitochondria
Hibiki Kawamata et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
Simon Edvardson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect
Leslie A. Nangle et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization
Takahiro Chihara et al.
NATURE NEUROSCIENCE (2007)
Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase
Wei Xie et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
Anthony Antonellis et al.
JOURNAL OF NEUROSCIENCE (2006)
An active dominant mutation of Glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
Kevin L. Seburn et al.
NEURON (2006)
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A Jordanova et al.
NATURE GENETICS (2006)
Toward the full set of human mitochondrial aminoacyl-tRNA synthetases:: Characterization of AspRS and TyrRS
L Bonnefond et al.
BIOCHEMISTRY (2005)
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
A Antonellis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
A human aminoacyl-tRNA synthetase as a regulator of angiogenesis
K Wakasugi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
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