Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Open Access
- 1 June 2012
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 90 (6) , 1079-1087
- https://doi.org/10.1016/j.ajhg.2012.04.011
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cellsMitochondrion, 2012
- Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers SyndromeAmerican Journal of Human Genetics, 2012
- In Vivo and In Organello Analyses of Mitochondrial TranslationPublished by Elsevier ,2007
- Mutations in MTO2 Related to tRNA Modification Impair Mitochondrial Gene Expression and Protein Synthesis in the Presence of a Paromomycin Resistance Mutation in Mitochondrial 15 S rRNAJournal of Biological Chemistry, 2005
- Mitochondria-specific RNA-modifying Enzymes Responsible for the Biosynthesis of the Wobble Base in Mitochondrial tRNAsJournal of Biological Chemistry, 2005
- Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese FamilyAmerican Journal of Human Genetics, 2004
- Isolation and Characterization of the Putative Nuclear Modifier Gene MTO1 Involved in the Pathogenesis of Deafness-associated Mitochondrial 12 S rRNA A1555G MutationJournal of Biological Chemistry, 2002
- MTO1 Codes for a Mitochondrial Protein Required for Respiration in Paromomycin-resistant Mutants of Saccharomyces cerevisiaeJournal of Biological Chemistry, 1998
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993
- Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiencyEuropean Journal of Pediatrics, 1993