Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

@article{Azmanov2016TranscriptomewideEO,
  title={Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.},
  author={Dimitar N Azmanov and Stefan J Siira and Teodora Chamova and Ara G. Kaprelyan and Velina Guergueltcheva and Anne-Marie J. Shearwood and Ganqiang Liu and Bharti Morar and Oliver Rackham and Michael Bynevelt and Margarita V. Grudkova and Zdravko Asenov Kamenov and Vassil Svechtarov and Ivailo Tournev and Luba V Kalaydjieva and Aleksandra Filipovska},
  journal={Human molecular genetics},
  year={2016},
  volume={25 19},
  pages={4302-4314}
}
RNA polymerase III is essential for the transcription of non-coding RNAs, including tRNAs. Mutations in the genes encoding its largest subunits are known to cause hypomyelinating leukodystrophies (HLD7) with pathogenetic mechanisms hypothesised to involve impaired availability of tRNAs. We have identified a founder mutation in the POLR3A gene that leads to aberrant splicing, a premature termination codon and partial deficiency of the canonical full-length transcript. Our clinical and imaging… CONTINUE READING
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