VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

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

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

(2012) Florin Sasarman et al.   HUMAN MUTATION

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

(2012) F. Invernizzi et al.   MITOCHONDRION

Yeast mitochondrial threonyl-tRNA synthetase recognizes tRNA isoacceptors by distinct mechanisms and promotes CUN codon reassignment

(2012) J. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

An unusual tRNAThr derived from tRNAHis reassigns in yeast mitochondria the CUN codons to threonine

(2011) Dan Su et al.   NUCLEIC ACIDS RESEARCH

TEFM (c17orf42) is necessary for transcription of human mtDNA

(2011) Michal Minczuk et al.   NUCLEIC ACIDS RESEARCH

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

(2009) P. Goffrini et al.   HUMAN MOLECULAR GENETICS

Down-regulation of CXCR4 expression by SDF-KDEL in CD34+ hematopoietic stem cells: An anti-human immunodeficiency virus strategy

(2009) Jiu-Cong Zhang et al.   JOURNAL OF VIROLOGICAL METHODS

The many applications of acid urea polyacrylamide gel electrophoresis to studies of tRNAs and aminoacyl-tRNA synthetases

(2008) Caroline Köhrer et al.   METHODS

MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome

(2008) Matthias Elstner et al.   MOLECULAR BIOTECHNOLOGY