Ontology highlight
ABSTRACT:
SUBMITTER: Boczonadi V
PROVIDER: S-EPMC4102769 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Boczonadi Veronika V Müller Juliane S JS Pyle Angela A Munkley Jennifer J Dor Talya T Quartararo Jade J Ferrero Ileana I Karcagi Veronika V Giunta Michele M Polvikoski Tuomo T Birchall Daniel D Princzinger Agota A Cinnamon Yuval Y Lützkendorf Susanne S Piko Henriett H Reza Mojgan M Florez Laura L Santibanez-Koref Mauro M Griffin Helen H Schuelke Markus M Elpeleg Orly O Kalaydjieva Luba L Lochmüller Hanns H Elliott David J DJ Chinnery Patrick F PF Edvardson Shimon S Horvath Rita R
Nature communications 20140703
The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central n ...[more]