Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclearMTO1and a mitochondrialMT-TFvariant

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

(2013) Enrico Baruffini et al.   HUMAN MUTATION

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

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

OXPHOS mutations and neurodegeneration

(2012) Werner J H Koopman et al.   EMBO JOURNAL

Epigenetics, epidemiology and mitochondrial DNA diseases

(2012) Patrick F Chinnery et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Muscle mitochondrial metabolism and calcium signaling impairment in patients treated with statins

(2012) P. Sirvent et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

Is Mitochondrial tRNAphe Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

(2011) A-Mei Zhang et al.   PLoS One

Mitochondrial Energetics and Therapeutics

(2010) Douglas C. Wallace et al.   Annual Review of Pathology-Mechanisms of Disease

Genotype–phenotype correlations in Leber hereditary optic neuropathy

(2010) Katarzyna Tońska et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Combination of the Loss of cmnm5U34 with the Lack of s2U34 Modifications of tRNALys, tRNAGlu, and tRNAGln Altered Mitochondrial Biogenesis and Respiration

(2009) Xinjian Wang et al.   JOURNAL OF MOLECULAR BIOLOGY

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

(2009) Prasanth Potluri et al.   MOLECULAR GENETICS AND METABOLISM