TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

2015/07/17 by Christopher A. Powell, Christopher A. Powell, Robert Kopajtich +31 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #RNA modifications and cancer #Congenital Heart Disease Studies #Mitochondrial Function and Pathology

paper · pdf · doi:10.1016/j.ajhg.2015.06.011

Cited by

• Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
• Mitochondrial transcription and translation: overview
• TRNT1 deficiency: clinical, biochemical and molecular genetic features. [europepmc]
• Chemical and Conformational Diversity of Modified Nucleosides Affects tRNA Structure and Function. [europepmc]
• Nicotinamide metabolism regulates glioblastoma stem cell maintenance. [europepmc]
• Maturation of selected human mitochondrial tRNAs requires deadenylation. [europepmc]
• The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease. [europepmc]
• Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. [europepmc]
• A hypertension-associated mitochondrial DNA mutation introduces an m 1 G37 modification into tRNA Met , altering its structure and function. [europepmc]
• Mitochondrial DNA transcription and translation: clinical syndromes. [europepmc]
• OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer. [europepmc]
• Mitochondrial transcription and translation: overview. [europepmc]
• Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function. [europepmc]
• The mammalian mitochondrial epitranscriptome. [europepmc]
• Matching tRNA modifications in humans to their known and predicted enzymes. [europepmc]
• Recent advances in understanding the molecular genetic basis of mitochondrial disease. [europepmc]
• Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. [europepmc]
• tRNA Metabolism and Neurodevelopmental Disorders. [europepmc]
• Mitochondria as a Source and a Target for Uremic Toxins. [europepmc]
• NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. [europepmc]
• Pan-cancer analysis of RNA methyltransferases identifies FTSJ3 as a potential regulator of breast cancer progression. [europepmc]
• Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. [europepmc]
• The Dimensions of Primary Mitochondrial Disorders. [europepmc]
• Human Mitochondrial RNA Processing and Modifications: Overview. [europepmc]
• Reduced uremic metabolites are prominent feature of sarcopenia, distinct from antioxidative markers for frailty. [europepmc]
• NSUN3-mediated mitochondrial tRNA 5-formylcytidine modification is essential for embryonic development and respiratory complexes in mice. [europepmc]
• The life and times of a tRNA. [europepmc]