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Article

Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila.

Biology open - 25 Jan 2021

Hebbar Sarita, Lehmann Malte, Behrens Sarah, Hälsig Catrin, Leng Weihua, Yuan Michaela, Winkler Sylke, Knust Elisabeth

Abstract excerpt

Retinitis pigmentosa (RP) is a clinically heterogeneous disease affecting 1.6 million people worldwide. The second-largest group of genes causing autosomal dominant RP in human encodes regulators of the splicing machinery. Yet, how defects in splicing factor genes are linked to the aetiology of the disease remains largely elusive. To explore possible mechanisms underlying retinal degeneration caused by mutations...

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Share to RNA Splicing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Photoreceptor Cells

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Source

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Identifiers

PMID: 33495354
DOI: 10.1242/bio.052332
PMCID: PMC7860132

Provenance

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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