The homozygous R504C mutation inMTO1gene is responsible for ONCE syndrome

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

(2015) Majida Charif et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

(2015) Christopher A. Powell et al.   Frontiers in Genetics

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

(2015) Christin Tischner et al.   HUMAN MOLECULAR GENETICS

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

(2014) Pilar Quijada-Fraile et al.   Orphanet Journal of Rare Diseases

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

Whole-Exome Sequencing Identifies a Variant of the MitochondrialMT-ND1Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

(2013) Aitor Delmiro 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

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Conserved Cysteine Residues of GidA Are Essential for Biogenesis of 5-Carboxymethylaminomethyluridine at tRNA Anticodon

(2009) Takuo Osawa et al.   STRUCTURE

Crystal Structures of the Conserved tRNA-Modifying Enzyme GidA: Implications for Its Interaction with MnmE and Substrate

(2008) S. Meyer et al.   JOURNAL OF MOLECULAR BIOLOGY