Ontology highlight
ABSTRACT:
SUBMITTER: Morton DJ
PROVIDER: S-EPMC5769741 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Morton Derrick J DJ Kuiper Emily G EG Jones Stephanie K SK Leung Sara W SW Corbett Anita H AH Fasken Milo B MB
RNA (New York, N.Y.) 20171101 2
The RNA exosome is an evolutionarily conserved, ribonuclease complex that is critical for both processing and degradation of a variety of RNAs. Cofactors that associate with the RNA exosome likely dictate substrate specificity for this complex. Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutations in the RNA exosome genes <i>EXOSC3</i> and <i>EXOSC8</i> cause pontocerebellar hypoplasia type 1b (PCH1b) and ...[more]