Articles with "mrm2" as a keyword



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A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit

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Published in 2022 at "Nature Communications"

DOI: 10.1038/s41467-022-28503-5

Abstract: Many cellular processes, including ribosome biogenesis, are regulated through post-transcriptional RNA modifications. Here, a genome-wide analysis of the human mitochondrial transcriptome shows that 2’- O -methylation is limited to residues of the mitoribosomal large subunit… read more here.

Keywords: stage assembly; large subunit; human mitochondrial; biogenesis ... See more keywords
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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

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Published in 2017 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddx314

Abstract: Abstract Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like… read more here.

Keywords: rrna; causes melas; mrm2 causes; melas like ... See more keywords