4.5 Article

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

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Oxidative stress in inherited mitochondrial diseases

Genki Hayashi et al.

FREE RADICAL BIOLOGY AND MEDICINE (2015)

Article Endocrinology & Metabolism

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

Immo E. Scheffler

JOURNAL OF INHERITED METABOLIC DISEASE (2015)

Article Ophthalmology

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy

Pingping Jiang et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)

Article Biochemistry & Molecular Biology

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

Shasha Gong et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

Coronary heart disease is associated with a mutation in mitochondrial tRNA

Zidong Jia et al.

HUMAN MOLECULAR GENETICS (2013)

Article Genetics & Heredity

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

Florin Sasarman et al.

HUMAN MUTATION (2012)

Review Genetics & Heredity

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

Tsutomu Suzuki et al.

ANNUAL REVIEW OF GENETICS, VOL 45 (2011)

Article Biochemistry & Molecular Biology

Assessing bioenergetic function in response to oxidative stress by metabolic profiling

Brian P. Dranka et al.

FREE RADICAL BIOLOGY AND MEDICINE (2011)

Article Genetics & Heredity

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

Nopasak Phasukkijwatana et al.

HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

Valerio Carelli et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2009)

Review Genetics & Heredity

Inherited mitochondrial optic neuropathies

P. Yu-Wai-Man et al.

JOURNAL OF MEDICAL GENETICS (2009)

Article Multidisciplinary Sciences

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

Paul J. Paukstelis et al.

NATURE (2008)

Article Genetics & Heredity

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy

Suma P. Shankar et al.

OPHTHALMIC GENETICS (2008)

Article Genetics & Heredity

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Gavin Hudson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Biochemistry & Molecular Biology

An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria

Youfen Li et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Biochemistry & Molecular Biology

An enhanced MITOMAP with a global mtDNA mutational phylogeny

Eduardo Ruiz-Pesini et al.

NUCLEIC ACIDS RESEARCH (2007)

Review Ophthalmology

Leber's hereditary optic neuropathy: A multifactorial disease

May-Yung Yen et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2006)

Article Genetics & Heredity

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

G Hudson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Biochemistry & Molecular Biology

Bioenergetics of mitochondrial diseases associated with mtDNA mutations

G Lenaz et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)

Article Genetics & Heredity

The epidemiology of Leber hereditary optic neuropathy in the North East of England

PYW Man et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

A Wong et al.

HUMAN MOLECULAR GENETICS (2002)