2017
DOI: 10.1534/genetics.116.195917
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Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast

Abstract: 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 39-59 exoribonuclease subunits, that mediates several RNA degradation and processing steps. The goal of this study is to assess the functio… Show more

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Cited by 30 publications
(82 citation statements)
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“…One of the major differences between our results and those reported in this study is that the authors did not find any impact of these mutations on pre-rRNA processing, as no accumulation of the ITS-2 containing pre-rRNA species was detected by RT-PCR for the two mutants analyzed, G8A and W195R (Fasken et al 2016). In contrast, our analysis …”
Section: Exosc3 Mutation Effects In Yeast Rrp40contrasting
confidence: 99%
See 4 more Smart Citations
“…One of the major differences between our results and those reported in this study is that the authors did not find any impact of these mutations on pre-rRNA processing, as no accumulation of the ITS-2 containing pre-rRNA species was detected by RT-PCR for the two mutants analyzed, G8A and W195R (Fasken et al 2016). In contrast, our analysis …”
Section: Exosc3 Mutation Effects In Yeast Rrp40contrasting
confidence: 99%
“…A recently published study also analyzed in S. cerevisiae the impact of some of the same mutations analyzed here (Fasken et al 2016). Our results are consistent with most of the results reported in this study, including the effects on growth.…”
Section: Exosc3 Mutation Effects In Yeast Rrp40supporting
confidence: 92%
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