Article
Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
Human molecular genetics - 15 Jul 2013
Nonnekens Julie, Perez-Fernandez Jorge, Theil Arjan F, Gadal Olivier, Bonnart Chrystelle, Giglia-Mari Giuseppina
Abstract excerpt
The basal transcription/repair factor II H (TFIIH), found mutated in cancer-prone or premature aging diseases, plays a still unclear role in RNA polymerase I transcription. Furthermore, the impact of this function on TFIIH-related diseases, such as trichothiodystrophy (TTD), remains to be explored. Here, we studied the involvement of TFIIH during the whole process of ribosome biogenesis, from RNAP1 transcription...
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