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Article

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.

Human molecular genetics - 15 Jan 2011

Linder Bastian, Dill Holger, Hirmer Anja, Brocher Jan, Lee Gek Ping, Mathavan Sinnakaruppan, Bolz Hanno Jörn, Winkler Christoph, Laggerbauer Bernhard, Fischer Utz

Abstract excerpt

Retinitis pigmentosa (RP) is a common hereditary eye disease that causes blindness due to a progressive loss of photoreceptors in the retina. RP can be elicited by mutations that affect the tri-snRNP subunit of the pre-mRNA splicing machinery, but how defects in this essential macromolecular complex transform into a photoreceptor-specific phenotype is unknown. We have modeled the disease in zebrafish by silencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21051334
DOI: 10.1093/hmg/ddq473

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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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