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

Mechanisms of ageing and development - 1 Dec 2020

Báez-Becerra Cindy Tatiana, Valencia-Rincón Estefania, Velásquez-Méndez Karen, Ramírez-Suárez Nelson J, Guevara Claudia, Sandoval-Hernandez Adrian, Arboleda-Bustos Carlos E, Olivos-Cisneros Leonora, Gutiérrez-Ospina Gabriel, Arboleda Humberto, Arboleda Gonzalo

Abstract excerpt

Recently, mutations in the RNA polymerase III subunit A (POLR3A) have been described as the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS). POLR3A has important roles in transcription regulation of small RNAs, including tRNA, 5S rRNA, and 7SK rRNA. We aim to describe the cellular and molecular features of WRS fibroblasts. Cultures of primary fibroblasts from one WRS patient [monoallelic...

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Identifiers

PMID: 32976914
DOI: 10.1016/j.mad.2020.111360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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