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Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.
Front Genet. 2015 Mar 10;6:79. doi: 10.3389/fgene.2015.00079
Powell CA, Nicholls TJ, Minczuk M
Abstract:
.....This review focuses on the current knowledge of nDNA coding for proteins involved in mt-tRNA maturation that have been linked to human mitochondrial pathologies. We further discuss the possibility that tissue specific regulation of mt-tRNA modifying enzymes could play an important role in the clinical heterogeneity observed for mitochondrial diseases caused by mutations in mt-tRNA genes.
PMID: 25806043
Free Full-Text: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354410/