Article
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Human molecular genetics - 1 Oct 2016
Azmanov Dimitar N, Siira Stefan J, Chamova Teodora, Kaprelyan Ara, Guergueltcheva Velina, Shearwood Anne-Marie J, Liu Ganqiang, Morar Bharti, Rackham Oliver, Bynevelt Michael, Grudkova Margarita, Kamenov Zdravko, Svechtarov Vassil, Tournev Ivailo, Kalaydjieva Luba, Filipovska Aleksandra
Abstract excerpt
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...
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