
NCBI . NLM . NIH . GOV {
}
Title[redir]:
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies - PMC
Description:
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression of mtDNA-encoded genes, caused by mutations ...
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Keywords {π}
doi, mitochondrial, trmt, pubmed, google, scholar, figure, pmc, article, modification, free, trna, human, variants, protein, individuals, mutations, rna, genet, cells, mttrna, activity, affected, age, data, hum, rtpex, showed, site, muscle, model, trnas, mtdna, disease, control, trm, clinical, methyltransferase, cardiomyopathy, detected, translation, performed, complex, respiratory, gene, residues, values, score, pmetval, fibroblasts,
Topics {βοΈ}
acid-base proton-transfer reaction multiple respiratory-chain deficiencies e-rare project genomit mitochondrial-trna-modifying enzymes vital interventricular septum-wall diameter tissue-specific threshold effects human respiratory-chain deficiencies dttp-induced stalling intensity post-transcriptional modification pattern engineered zinc-finger proteins pmc beta search similar steady-state levels web resources rt-pex reactions preformed cdk5rap1-mediated 2-methylthio modification adomet-dependent methyltransferases superfamily figures s1βs6 mmc1 n6-2-methylthio-n6-threonylcarbamoyladenosine 6-day sirna-mediated depletion pmc copyright notice mitochondrial-trna modifier mto1 respiratory-chain complexes lead mt-trna modification deficiencies rt-pex reaction readthrough rt-pex experiment performed mt-trna modifying factors amino-acid residues affected rt-pex reactions performed modified mt-trna positions vivo aa-trna selection post-transcriptional processing post-transcriptional modifications outer-membrane protein tom22 highly specialized mechanisms rt-pex assay performed histo-chemical cox defect blocking base pairing showed slight dystrophy supplemental data include supplemental data mmc2 post-transcriptional modification respiratory-chain analysis mt-trna anticodon loop mitochondrial disease-causing factors methanocaldococcus jannaschii atrm5βtrnacys rt-pex pausing license information pmcid skeletal-muscle biopsy samples sirna-induced depletion affect mt-trna modification
Questions {β}
- A primordial tRNA modification required for the evolution of life?
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- Monthly income for https://doi.org/10.1093/emboj/20.17.4863
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- What is the monthly revenue of https://scholar.google.com/scholar_lookup?journal=J.%C2%A0Mol.%20Biol.&title=Three%20modified%20nucleosides%20present%20in%20the%20anticodon%20stem%20and%20loop%20influence%20the%20in%C2%A0vivo%20aa-tRNA%20selection%20in%20a%20tRNA-dependent%20manner&author=J.%20Li&author=B.%20Esberg&author=J.F.%20Curran&author=G.R.%20Bj%C3%B6rk&volume=271&publication_year=1997&pages=209-221&pmid=9268653&doi=10.1006/jmbi.1997.1176&?
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