Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

2009/09/01 by Avraham Zeharia, Avraham Shaag, Orit Pappo +12 · 30 citations
Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology

paper · pdf · doi:10.1016/j.ajhg.2009.08.004

Cited by

• Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
• Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
• Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
• Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
• Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases
• A compendium of human mitochondrial gene expression machinery with links to disease. [europepmc]
• Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. [europepmc]
• Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. [europepmc]
• The output of the tRNA modification pathways controlled by the Escherichia coli MnmEG and MnmC enzymes depends on the growth conditions and the tRNA species. [europepmc]
• Functional genomic analysis of human mitochondrial RNA processing. [europepmc]
• Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. [europepmc]
• Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease. [europepmc]
• Modification of the wobble uridine in bacterial and mitochondrial tRNAs reading NNA/NNG triplets of 2-codon boxes. [europepmc]
• Modify or die?--RNA modification defects in metazoans. [europepmc]
• Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease. [europepmc]
• Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. [europepmc]
• Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. [europepmc]
• Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. [europepmc]
• Biosynthesis of Sulfur-Containing tRNA Modifications: A Comparison of Bacterial, Archaeal, and Eukaryotic Pathways. [europepmc]
• Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. [europepmc]
• CO 2 -sensitive tRNA modification associated with human mitochondrial disease. [europepmc]
• Mitochondrial DNA transcription and translation: clinical syndromes. [europepmc]
• RNA modification landscape of the human mitochondrial tRNA Lys regulates protein synthesis. [europepmc]
• tRNA-Derived Small RNAs: Biogenesis, Modification, Function and Potential Impact on Human Disease Development. [europepmc]
• Roles of Elongator Dependent tRNA Modification Pathways in Neurodegeneration and Cancer. [europepmc]
• Matching tRNA modifications in humans to their known and predicted enzymes. [europepmc]
• Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism. [europepmc]
• Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. [europepmc]
• NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. [europepmc]
• Complete chemical structures of human mitochondrial tRNAs. [europepmc]