EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

@inproceedings{Boczonadi2014EXOSC8MA,
  title={EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia},
  author={Veronika Boczonadi and Juliane S. M{\"u}ller and Angela Pyle and Jennifer Munkley and Talya Dor and Jade Quartararo and Ileana Ferrero and Veronika Karcagi and Michele Giunta and Tuomo M. Polvikoski and Daniel Birchall and Agota Princzinger and Yuval Cinnamon and Susanne L{\"u}tzkendorf and Henriett Pik{\'o} and Mojgan Reza and L. J. Garc{\'i}a Fl{\'o}rez and Mauro F. Santibanez-Koref and Helen R. Griffin and Markus Schuelke and Orly Elpeleg and Luba V Kalaydjieva and Hanns Lochm{\"u}ller and David J. Elliott and Patrick F. Chinnery and Shimon Edvardson and Rita Horvath},
  booktitle={Nature communications},
  year={2014}
}
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… CONTINUE READING
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Patient exome sequence data have been deposited in the European Genome-phenome Archive (EGA) under the accession code EGAS00001000856

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