Article

Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch Syndrome fibroblasts

2020-01-30

Abstract excerpt

<h4>ABSTRACT</h4> Recently, mutations in the RNA polymerase III subunit 3A (POLR3A) have been described as the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS). POLR3A have important roles in the regulation of transcription of small RNAs, including tRNA, 5S rRNA and U6 snRNA. We aim to describe cellular and molecular features of WRS fibroblasts. Cultures of primary fibroblasts from one WRS...

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Literature Corpus work: 128d4ad2-34d7-53e6-a4fc-b77e00134411
DOI: 10.1101/2020.01.29.925131

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