The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

Oxidative stress in inherited mitochondrial diseases

(2015) Genki Hayashi et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

(2015) Mariella Simon et al.   PLoS Genetics

A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation

(2015) Chao Chen et al.   Protein & Cell

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency

(2014) Immo E. Scheffler   JOURNAL OF INHERITED METABOLIC DISEASE

Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families

(2014) Juanjuan Zhang et al.   MITOCHONDRION

A deafness-associated tRNAHismutation alters the mitochondrial function, ROS production and membrane potential

(2014) Shasha Gong et al.   NUCLEIC ACIDS RESEARCH

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

(2013) Carla Giordano et al.   BRAIN

Coronary heart disease is associated with a mutation in mitochondrial tRNA

(2013) Zidong Jia et al.   HUMAN MOLECULAR GENETICS

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families

(2013) Juanjuan Zhang et al.   MITOCHONDRION

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

(2013) Lisa G Riley et al.   Orphanet Journal of Rare Diseases

An Incompatibility between a Mitochondrial tRNA and Its Nuclear-Encoded tRNA Synthetase Compromises Development and Fitness in Drosophila

(2013) Colin D. Meiklejohn et al.   PLoS Genetics

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

(2012) Florin Sasarman et al.   HUMAN MUTATION

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

Assessing bioenergetic function in response to oxidative stress by metabolic profiling

(2011) Brian P. Dranka et al.   FREE RADICAL BIOLOGY AND MEDICINE

The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation

(2011) Yaping Qian et al.   MITOCHONDRION

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

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

(2010) Nopasak Phasukkijwatana et al.   HUMAN GENETICS

Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation

(2010) Xiangtian Zhou et al.   MOLECULAR GENETICS AND METABOLISM

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

(2009) Valerio Carelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Evaluation of chemiluminescence and flow cytometry as tools in assessing production of hydrogen peroxide and superoxide anion in human spermatozoa

(2008) Reda Mahfouz et al.   FERTILITY AND STERILITY

Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels

(2008) Anna Maria Porcelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inherited mitochondrial optic neuropathies

(2008) P Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS

Structure of a tyrosyl-tRNA synthetase splicing factor bound to a group I intron RNA

(2008) Paul J. Paukstelis et al.   NATURE

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

(2008) Suma P. Shankar et al.   OPHTHALMIC GENETICS