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

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

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

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

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

(2014) K. Hallmann et al.   NEUROLOGY

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Mitochondria: Mitochondrial RNA metabolism and human disease

(2013) Thomas J. Nicholls et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mitochondrial aminoacyl-tRNA synthetases in human disease

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

The post-transcriptional life of mammalian mitochondrial RNA

(2012) Joanna Rorbach et al.   BIOCHEMICAL JOURNAL

Phenotypic and genotypic variability in Alpers syndrome

(2012) Kalliopi Sofou et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

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

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial diseases: Translation matters

(2012) Sarah Pearce et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation

(2010) Agnieszka A. Kendrick et al.   BIOCHEMICAL JOURNAL

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

(2009) Joél Smet et al.   ELECTROPHORESIS

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

(2009) A. Nagao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Next generation sequence analysis for mitochondrial disorders

(2009) Valeria Vasta et al.   Genome Medicine

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

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

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions

(2008) Young Mock Lee et al.   EPILEPSIA

Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features

(2008) Nicole I. Wolf et al.   EPILEPSIA

Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies

(2008) D. Khurana et al.   NEUROPEDIATRICS