Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.04.004
Abstract: BACKGROUND AND PURPOSE Mitochondrial aminoacyl-tRNA synthetases-encoded by ARS2 genes-are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their cognate tRNAs, ensuring the accuracy of the mitochondrial translation process. ARS2 gene mutations are… read more here.
Keywords: brain mri; aminoacyl trna; mri; mitochondrial aminoacyl ... See more keywords
RNA granule-clustered mitochondrial aminoacyl-tRNA synthetases form multiple complexes with the potential to fine-tune tRNA aminoacylation
Sign Up to like & getrecommendations! Published in 2022 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkac1141
Abstract: Abstract Mitochondrial RNA metabolism is suggested to occur in identified compartmentalized foci, i.e. mitochondrial RNA granules (MRGs). Mitochondrial aminoacyl-tRNA synthetases (mito aaRSs) catalyze tRNA charging and are key components in mitochondrial gene expression. Mutations of… read more here.
Keywords: mito aarss; rna; trna synthetases; aminoacyl trna ... See more keywords
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-019-9292-y
Abstract: BackgroundThe mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial diseases are a large, clinically heterogeneous group… read more here.
Keywords: group; disease; mitochondrial aminoacyl; trna synthetase ... See more keywords