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Article

Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity.

PloS one - 1 Jan 2022

Obuća Mina, Cvačková Zuzana, Kubovčiak Jan, Kolář Michal, Staněk David

Abstract excerpt

Retinitis pigmentosa (RP) is a hereditary disease affecting tens of thousands of people world-wide. Here we analyzed the effect of an amino acid substitution in the RNA helicase DHX38 (Prp16) causing RP. DHX38 has been proposed as the helicase important for the 2nd step of splicing. We showed that DHX38 associates with key splicing factors involved in both splicing steps but did not find any evidence that the RP...

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Identifiers

PMID: 35385551
DOI: 10.1371/journal.pone.0265742
PMCID: PMC8985939

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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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