Article
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.
Genetics - 1 Jan 2017
Fasken Milo B, Losh Jillian S, Leung Sara W, Brutus Sergine, Avin Brittany, Vaught Jillian C, Potter-Birriel Jennifer, Craig Taylor, Conn Graeme L, Mills-Lujan Katherine, Corbett Anita H, van Hoof Ambro
Abstract excerpt
Pontocerebellar hypoplasia type 1b (PCH1b) is an autosomal recessive disorder that causes cerebellar hypoplasia and spinal motor neuron degeneration, leading to mortality in early childhood. PCH1b is caused by mutations in the RNA exosome subunit gene, EXOSC3 The RNA exosome is an evolutionarily conserved complex, consisting of nine different core subunits, and one or two 3'-5' exoribonuclease subunits, that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.