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Takeshi Mizuguchi et al.
JOURNAL OF HUMAN GENETICS (2017)
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Pei-Chien Tsai et al.
BRAIN (2017)
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia
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HUMAN MUTATION (2016)
A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
Olcay Gungor et al.
BRAIN & DEVELOPMENT (2016)
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia
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EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2016)
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease
Nikos Malissovas et al.
HUMAN MOLECULAR GENETICS (2016)
A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects
Yong Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
The crystal structure of human GlnRS provides basis for the development of neurological disorders
Jana Ognjenovic et al.
NUCLEIC ACIDS RESEARCH (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)
Antisynthetase Syndrome: A Review of Etiopathogenesis, Diagnosis and Management
Aibek E. Mirrakhimov
CURRENT MEDICINAL CHEMISTRY (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)
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
Zejuan Li et al.
JOURNAL OF HUMAN GENETICS (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)
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
Cornelia Koehler et al.
MOLECULAR AND CELLULAR PROBES (2015)
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
Weiwei He et al.
NATURE (2015)
A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family
Aping Sun et al.
NEUROLOGICAL RESEARCH (2015)
A novel AARS mutation in a family with dominant myeloneuropathy
W. W. Motley et al.
NEUROLOGY (2015)
Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures
Claude Sauter et al.
SCIENTIFIC 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)
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy
Hirofumi Kodera et al.
JOURNAL OF HUMAN GENETICS (2015)
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Nicole I. Wolf et al.
NEUROLOGY (2015)
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
Yi-Chu Liao et al.
PLOS ONE (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)
Idiopathic inflammatory myopathies and the anti-synthetase syndrome: A comprehensive review
Michael Mahler et al.
AUTOIMMUNITY REVIEWS (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)
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)
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome
Jeremy Schwartzentruber et al.
HUMAN MUTATION (2014)
Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations
Laurie B. Griffin et al.
HUMAN MUTATION (2014)
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
Daria Diodato et al.
HUMAN MUTATION (2014)
GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy
Ah Jung Seo et al.
JOURNAL OF CHEMICAL NEUROANATOMY (2014)
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
Kerstin Hallmann et al.
NEUROLOGY (2014)
Novel (ovario) leukodystrophy related to AARS2 mutations
Cristina Dallabona et al.
NEUROLOGY (2014)
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Gaia Novarino et al.
SCIENCE (2014)
Transfer RNA and human disease
Jamie A. Abbott et al.
FRONTIERS IN GENETICS (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)
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
Katherina Kastrissianakis et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2013)
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways
Laura van Berge et al.
BIOCHEMICAL JOURNAL (2013)
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation
Beril Talim et al.
BRAIN (2013)
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2
Sumimasa Yamashita et al.
BRAIN & DEVELOPMENT (2013)
Aminoacyl-tRNA synthetases in medicine and disease
Peng Yao et al.
EMBO MOLECULAR MEDICINE (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)
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
Denise Cassandrini et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients
Mika H. Martikainen et al.
JOURNAL OF NEUROLOGY (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)
Mitochondrial aminoacyl-tRNA synthetases in human disease
Svetlana Konovalova et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture
Anne Neuenfeldt et al.
NUCLEIC ACIDS RESEARCH (2013)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA
Laura van Berge et al.
BIOCHEMICAL JOURNAL (2012)
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Marjan E. Steenweg et al.
BRAIN (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)
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Emma Glamuzina et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Hanan E. Shamseldin et al.
JOURNAL OF MEDICAL GENETICS (2012)
Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene
Charalampos Tzoulis et al.
JOURNAL OF NEUROLOGY (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)
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 of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Genevieve Bernard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Martine Tetreault et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient
Hanna Mierzewska et al.
BRAIN & DEVELOPMENT (2011)
A novel homozygous mutation of DARS2 may cause a severe LBSL variant
N. Miyake et al.
CLINICAL GENETICS (2011)
Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate
Suvasini Sharma et al.
JOURNAL OF CHILD NEUROLOGY (2011)
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation
Matthis Synofzik et al.
JOURNAL OF MEDICAL GENETICS (2011)
Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations
Pierre Labauge et al.
JOURNAL OF NEUROLOGY (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)
Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation
Miora Feinstein 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)
Pontocerebellar Hypoplasia Type 6: A British Case With PEHO-Like Features
Julia Rankin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Functional expansion of human tRNA synthetases achieved by structural inventions
Min Guo et al.
FEBS LETTERS (2010)
Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene
Jaime Lin et al.
JOURNAL OF CHILD NEUROLOGY (2010)
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
P. Isohanni et al.
JOURNAL OF MEDICAL GENETICS (2010)
New functions of aminoacyl-tRNA synthetases beyond translation
Min Guo et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy
Erik Storkebaum et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases
Anthony Antonellis et al.
Annual Review of Genomics and Human Genetics (2008)
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings
Kayihan Uluc et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)
Aminoacyl tRNA synthetases and their connections to disease
Sang Gyu Park et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Gert C. Scheper et al.
NATURE GENETICS (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)
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
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NATURE (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)
Disease mechanisms in inherited neuropathies
U Suter et al.
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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
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AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Evolution of structure in aminoacyl-tRNA synthetases
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MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2003)
Aminoacyl-tRNA synthetases, the genetic code, and the evolutionary process
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