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Article

Defects in RNA metabolism in mitochondrial disease.

The international journal of biochemistry & cell biology - 1 Apr 2017

Siira Stefan J, Shearwood Anne-Marie J, Bracken Cameron P, Rackham Oliver, Filipovska Aleksandra

Abstract excerpt

The expression of mitochondrially-encoded genes requires the efficient processing of long precursor RNAs at the 5' and 3' ends of tRNAs, a process which, when disrupted, results in disease. Two such mutations reside within mt-tRNALeu(UUR); a m.3243A>G transition, which is the most common cause of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and m.3302A>G which often...

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Identifiers

PMID: 28189843
DOI: 10.1016/j.biocel.2017.02.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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