Article

A <i>POLR3B</i> -variant reveals a Pol III transcriptome response dependent on La protein/SSB

2024-02-05

Abstract excerpt

<h4>ABSTRACT</h4> RNA polymerase III (Pol III, POLR3) synthesizes tRNAs and other small non-coding RNAs. Human POLR3 pathogenic variants cause a range of developmental disorders, recapitulated in part by mouse models, yet some aspects of POLR3 deficiency have not been explored. We characterized a human POLR3B :c.1625A>G;p.(Asn542Ser) disease variant that was found to cause mis-splicing of POLR3B . Genome-edite...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d9f23fad-67f2-564d-b7fe-edd5249d71fd
DOI: 10.1101/2024.02.05.577363

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A <i>POLR3B</i> -variant reveals a Pol III transcriptome response dependent on La protein/SSBDOI 10.1101/2024.02.05.577363Read

RNA Polymerase III Advances: Structural and tRNA Functional Views.Semantic proximity Read

A cancer-associated RNA polymerase III identity drives robust transcription and expression of SNAR-A noncoding RNASemantic proximity Read

High-resolution mapping of human RNA polymerase III reveals transcription termination as a rate-limiting stepSemantic proximity Read

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.Semantic proximity Read

RNA and disease.Semantic proximity Read

Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision TherapeuticsSemantic proximity Read

RNA Polymerase III Subunit Mutations in Genetic DiseasesSemantic proximity Read

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.Semantic proximity Read

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathySemantic proximity Read

Molecular basis of neurodegeneration in a mouse model of <i>Polr3</i> -related diseaseSemantic proximity Read

RNA polymerase III transcription as a disease factor.Semantic proximity Read

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read