Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

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

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

Peptides from aminoacyl-tRNA synthetases can cure the defects due to mutations in mt tRNA genes

(2011) Silvia Francisci et al.   MITOCHONDRION

The role of reactive oxygen species and autophagy in safingol-induced cell death

(2011) L-U Ling et al.   Cell Death & Disease

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

(2011) Raquel Moreno-Loshuertos et al.   PLoS Genetics

Aminoacyl-tRNA synthetases are multivalent suppressors of defects due to human equivalent mutations in yeast mt tRNA genes

(2010) Arianna Montanari et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

(2010) Carla Giordano et al.   BRAIN

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

(2010) Helen A. L. Tuppen et al.   BRAIN

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNALeu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes

(2010) R. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

Ensembl 2011

(2010) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

(2010) Mari Carmen Gil Borlado et al.   PLoS One

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population

(2009) Hai-Yan Zhu et al.   CLINICA CHIMICA ACTA

Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

(2009) Mercy M. Davidson et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors

(2009) Cristina De Luca et al.   MITOCHONDRION

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity

(2009) Anna Ghelli et al.   PLoS One

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

(2008) Rosa Pello et al.   HUMAN MOLECULAR GENETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

(2008) Joanna Rorbach et al.   NUCLEIC ACIDS RESEARCH

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNALeu(UUR) gene

(2008) H. Park et al.   RNA

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease

(2007) Fernando Scaglia et al.   MUSCLE & NERVE