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• W1983859649 abstract "Muscle, heart and liver were analyzed in a male subject who succumbed to HSD10 disease. Respiratory chain enzyme analysis and BN-PAGE showed reduced activities and assembly of complexes I, III, IV, and V. The mRNAs of all RNase P subunits were preserved in heart and overexpressed in muscle, but MRPP2 protein was severely decreased. RNase P upregulation correlated with increased expression of mitochondrial biogenesis factors and preserved mitochondrial enzymes in muscle, but not in heart where this compensatory mechanism was incomplete. We demonstrate elevated amounts of unprocessed pre-tRNAs and mRNA transcripts encoding mitochondrial subunits indicating deficient RNase P activity. This study provides evidence of abnormal mitochondrial RNA processing causing mitochondrial energy failure in HSD10 disease." @default.
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• W1983859649 date "2015-03-01" @default.
• W1983859649 modified "2023-10-02" @default.
• W1983859649 title "Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing" @default.
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• W1983859649 doi "https://doi.org/10.1016/j.mito.2014.12.005" @default.
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