Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Making Proteins in the Powerhouse

(2014) B. Martin Hällberg et al.   Cell Metabolism

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The selective tRNA aminoacylation mechanism based on a single G•U pair

(2014) Masahiro Naganuma et al.   NATURE

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

(2014) K. Hallmann et al.   NEUROLOGY

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

(2014) S. Ahola et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

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

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

(2013) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

(2013) Christopher J Carroll et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial aminoacyl-tRNA synthetases in human disease

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

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Marjan E. Steenweg et al.   BRAIN

Mitochondria: In Sickness and in Health

(2012) Jodi Nunnari et al.   CELL

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

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

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

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

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 in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

(2011) Louise Galmiche et al.   HUMAN MUTATION

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

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

Paradox of mistranslation of serine for alanine caused by AlaRS recognition dilemma

(2009) Min Guo et al.   NATURE

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

The C-Ala Domain Brings Together Editing and Aminoacylation Functions on One tRNA

(2009) M. Guo et al.   SCIENCE