Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination

eIF2B activator prevents neurological defects caused by a chronic integrated stress response

(2019) Yao Liang Wong et al.   eLife

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases

(2018) I. Taglia et al.   ACTA NEUROLOGICA SCANDINAVICA

Mitochondrial DNA transcription and translation: clinical syndromes

(2018) Veronika Boczonadi et al.   Essays in Biochemistry

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

(2018) Rick Kamps et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report

(2018) Qing Dong et al.   JOURNAL OF HUMAN GENETICS

The small molecule ISRIB rescues the stability and activity of Vanishing White Matter Disease eIF2B mutant complexes

(2018) Yao Liang Wong et al.   eLife

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

(2018) Ashraf Yahia et al.   BMC Neurology

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

(2018) Thomas Agnew et al.   Cell Reports

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells

(2017) Marijana Aradjanski et al.   HUMAN MOLECULAR GENETICS

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

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

MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases

(2017) Luc Moulinier et al.   HUMAN MUTATION

Phenotypic spectrum of DARS2 mutations

(2017) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

(2017) Jason H. Peragallo et al.   OPHTHALMIC GENETICS

Human aminoacyl-tRNA synthetases in diseases of the nervous system

(2017) Jana Ognjenović et al.   RNA Biology

Recent Advances in Mitochondrial Aminoacyl-tRNA Synthetases and Disease

(2017) Marie Sissler et al.   TRENDS IN MOLECULAR MEDICINE

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

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

(2016) Stella Mazurova et al.   CARDIOLOGY IN THE YOUNG

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

(2016) Birce Dilge Taskin et al.   JOURNAL OF CHILD NEUROLOGY

Astrocytes are central in the pathomechanisms of vanishing white matter

(2016) Stephanie Dooves et al.   JOURNAL OF CLINICAL INVESTIGATION

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

(2016) Mio Hamatani et al.   JOURNAL OF HUMAN GENETICS

Novel AARS2 gene mutation producing leukodystrophy: a case report

(2016) Laszlo Szpisjak et al.   JOURNAL OF HUMAN GENETICS

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

(2016) Katharina Danhauser et al.   METABOLIC BRAIN DISEASE

Wars2 is a determinant of angiogenesis

(2016) Mao Wang et al.   Nature Communications

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Cantharidin Combined with Chemotherapy for Chinese Patients with Metastatic Colorectal Cancer

(2015) Li Han et al.   Asian Pacific Journal of Cancer Prevention

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease

(2015) Noel C. Wortham et al.   BMC Medical 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

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

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

Mutations in a translation initiation factor identify the target of a memory-enhancing compound

(2015) Y. Sekine et al.   SCIENCE

Pharmacological dimerization and activation of the exchange factor eIF2B antagonizes the integrated stress response

(2015) Carmela Sidrauski et al.   eLife

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

(2014) L. van Berge et al.   BRAIN

Tissue-Specific Loss of DARS2 Activates Stress Responses Independently of Respiratory Chain Deficiency in the Heart

(2014) Sukru Anil Dogan et al.   Cell Metabolism

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): Assessment of the involved white matter tracts by MRI

(2013) Hassan Kassem et al.   EUROPEAN JOURNAL OF RADIOLOGY

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

Teaching NeuroImages: MRI guides genetics: Leukoencephalopathy with brainstem and spinal cord involvement (LBSL)

(2013) J. Schicks et al.   NEUROLOGY

Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: A case report and literature review

(2013) Jia-Chun Feng et al.   NEUROLOGY INDIA

Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement

(2012) Marjan E. Steenweg et al.   ARCHIVES OF NEUROLOGY

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

Early-Onset LBSL: How Severe Does It Get?

(2012) M. Steenweg et al.   NEUROPEDIATRICS

Epilepsy in mitochondrial disorders

(2012) Josef Finsterer et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Presentation of adult mitochondrial epilepsy

(2012) Josef Finsterer et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The Mechanism of Eukaryotic Translation Initiation: New Insights and Challenges

(2012) A. G. Hinnebusch et al.   Cold Spring Harbor Perspectives in Biology

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

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz 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

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

(2011) Marianne E. Steenweg et al.   BRAIN

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

(2011) N Miyake et al.   CLINICAL GENETICS

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes

(2011) Rui Liu et al.   HUMAN MUTATION

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

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

Leukoencephalopathy With Vanishing White Matter: A Review

(2010) Marianna Bugiani et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Defective Glial Maturation in Vanishing White Matter Disease

(2010) Marianna Bugiani et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Mammalian aminoacyl-tRNA synthetases: Cell signaling functions of the protein translation machinery

(2009) Meredith V. Brown et al.   VASCULAR PHARMACOLOGY

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

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

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM