Article
Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.
Cells - 17 Jul 2023
Zhu Gaojie, Khalid Fatima, Zhang Danhui, Cao Zhouli, Maity Pallab, Kestler Hans A, Orioli Donata, Scharffetter-Kochanek Karin, Iben Sebastian
Abstract excerpt
Mutations in a broad variety of genes can provoke the severe childhood disorder trichothiodystrophy (TTD) that is classified as a DNA repair disease or a transcription syndrome of RNA polymerase II. In an attempt to identify the common underlying pathomechanism of TTD we performed a knockout/knockdown of the two unrelated TTD factors TTDN1 and RNF113A and investigated the consequences on ribosomal biogenesis and...
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