BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

doi:10.1101/gr.176925.114

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Article

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Genome research - 1 Feb 2015

Borck Guntram, Hög Friederike, Dentici Maria Lisa, Tan Perciliz L, Sowada Nadine, Medeira Ana, Gueneau Lucie, Thiele Holger, Kousi Maria, Lepri Francesca, Wenzeck Larissa, Blumenthal Ian, Radicioni Antonio, Schwarzenberg Tito Livio, Mandriani Barbara, Fischetto Rita, Morris-Rosendahl Deborah J, Altmüller Janine, Reymond Alexandre, Nürnberg Peter, Merla Giuseppe, Dallapiccola Bruno, Katsanis Nicholas, Cramer Patrick, Kubisch Christian

Abstract excerpt

RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and germline mutations in genes encoding Pol III subunits or tRNA processing factors cause neurogenetic disorders in humans, such as hypomyelinating leukodystrophies and pontocerebellar hypoplasia. Here we describe an autosomal recessive...

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Identifiers

PMID: 25561519
DOI: 10.1101/gr.176925.114
PMCID: PMC4315290

Genes

BRF1
BDP1
TBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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