Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex

Abstract

SDR5C1 is an amino and fatty acid dehydrogenase/reductase, moonlighting as a component of human mitochondrial RNase P, which is the enzyme removing 5'-extensions of tRNAs, an early and crucial step in tRNA maturation. Moreover, a subcomplex of mitochondrial RNase P catalyzes the N(1)-methylation of purines at position 9, a modification found in most… (More)
DOI: 10.1093/nar/gkv408

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