Human aminoacyl-tRNA synthetases in diseases of the nervous system

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

(2017) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)

(2016) Olcay Güngör et al.   BRAIN & DEVELOPMENT

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

(2016) Daniella Nishri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease

(2016) Nikos Malissovas et al.   HUMAN MOLECULAR GENETICS

A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects

(2016) Yong Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The crystal structure of human GlnRS provides basis for the development of neurological disorders

(2016) Jana Ognjenović et al.   NUCLEIC ACIDS RESEARCH

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

(2015) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies

(2015) Dana Safka Brozkova et al.   BRAIN

Antisynthetase Syndrome: A Review of Etiopathogenesis, Diagnosis and Management

(2015) Aibek Mirrakhimov   CURRENT MEDICINAL CHEMISTRY

Dominant, toxic gain-of-function mutations ingarslead to non-cell autonomous neuropathology

(2015) Stuart J. Grice et al.   HUMAN MOLECULAR GENETICS

Novel, Compound Heterozygous, Single-Nucleotide Variants inMARS2Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

(2015) Bryn D. Webb et al.   HUMAN MUTATION

A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia

(2015) Ying Yang et al.   HUMAN MUTATION

Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)

(2015) Arnaud V. Vanlander et al.   HUMAN MUTATION

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

(2015) Zejuan Li et al.   JOURNAL OF HUMAN GENETICS

Mutations in the mitochondrial cysteinyl-tRNA synthase gene,CARS2,lead to a severe epileptic encephalopathy and complex movement disorder

(2015) Curtis R Coughlin et al.   JOURNAL OF MEDICAL GENETICS

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

(2015) Boglarka Bansagi et al.   JOURNAL OF NEUROLOGY

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

(2015) Cornelia Köhler et al.   MOLECULAR AND CELLULAR PROBES

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

(2015) Weiwei He et al.   NATURE

A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot–Marie–Tooth type 2D in a Chinese family

(2015) Aping Sun et al.   NEUROLOGICAL RESEARCH

A novel AARS mutation in a family with dominant myeloneuropathy

(2015) W. W. Motley et al.   NEUROLOGY

Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures

(2015) Claude Sauter et al.   Scientific Reports

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

(2015) Mariella Simon et al.   PLoS Genetics

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

(2015) Yi-Chu Liao et al.   PLoS One

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

(2014) Xiaochang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inRARScause hypomyelination

(2014) Nicole I. Wolf et al.   ANNALS OF NEUROLOGY

Idiopathic inflammatory myopathies and the anti-synthetase syndrome: A comprehensive review

(2014) Michael Mahler et al.   AUTOIMMUNITY REVIEWS

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

(2014) Jeremy Schwartzentruber et al.   HUMAN MUTATION

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

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

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy

(2014) Ah Jung Seo et al.   JOURNAL OF CHEMICAL NEUROANATOMY

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

(2014) Hugh J. McMillan et al.   JOURNAL OF CHILD NEUROLOGY

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

(2014) Hirofumi Kodera et al.   JOURNAL OF HUMAN GENETICS

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

(2014) N. I. Wolf et al.   NEUROLOGY

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

(2014) K. Hallmann et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Transfer RNA and human disease

(2014) Jamie A. Abbott et al.   Frontiers in Genetics

Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

(2014) Kalliopi Sofou et al.   Molecular Genetics & Genomic Medicine

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

(2013) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

(2013) K. Kastrissianakis et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

(2013) Abdulraheem Almalki et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Rare variants inmethionyl- andtyrosyl-tRNA synthetasegenes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy

(2013) Y.S. Hyun et al.   CLINICAL GENETICS

Aminoacyl-tRNA synthetases in medicine and disease

(2013) Peng Yao et al.   EMBO Molecular Medicine

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

(2013) Mika H. Martikainen et al.   JOURNAL OF NEUROLOGY

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

(2013) Michael Gonzalez et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial aminoacyl-tRNA synthetases in human disease

(2013) Svetlana Konovalova et al.   MOLECULAR GENETICS AND METABOLISM

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

(2012) Laura van Berge et al.   BIOCHEMICAL JOURNAL

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

(2012) Beril Talim et al.   BRAIN

Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2

(2012) Sumimasa Yamashita et al.   BRAIN & DEVELOPMENT

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

(2012) Jenni M. Elo et al.   HUMAN MOLECULAR GENETICS

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

(2012) Aimée Vester et al.   HUMAN MUTATION

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

(2012) Z. Zhao et al.   NEUROLOGY

Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture

(2012) Anne Neuenfeldt et al.   NUCLEIC ACIDS RESEARCH

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

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 of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

(2011) Geneviève Bernard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

(2011) Martine Tétreault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA

(2011) Laura van Berge et al.   BIOCHEMICAL JOURNAL

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

(2011) Hanna Mierzewska et al.   BRAIN & DEVELOPMENT

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

(2011) N Miyake et al.   CLINICAL GENETICS

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

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate

(2011) Suvasini Sharma et al.   JOURNAL OF CHILD NEUROLOGY

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

(2011) Charalampos Tzoulis et al.   JOURNAL OF NEUROLOGY

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

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

(2010) Miora Feinstein 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

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

(2010) Jaime Lin et al.   JOURNAL OF CHILD NEUROLOGY

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

(2010) Pierre Labauge et al.   JOURNAL OF NEUROLOGY

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

Functional expansion of human tRNA synthetases achieved by structural inventions

(2009) Min Guo et al.   FEBS LETTERS

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

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

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings

(2008) Kayihan Uluc et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Aminoacyl tRNA synthetases and their connections to disease

(2008) S. G. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA