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Article

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics - 10 Aug 2026

Mayer Sara K, Christensen Quinton H, McCoy-Munger Hailey, Mohar Nathaniel P, Botero Valentina, Tomchik Seth M, Rong Yikang, Drack Arlene V, Wallrath Lori L

Abstract excerpt

Retinitis Pigmentosa (RP) is an inherited retinal degenerative disease that affects 1 in 4000 individuals worldwide and can lead to complete blindness. Early stages of RP involve death of rod photoreceptors via apoptosis, causing loss of peripheral and night vision, which is followed by death of cone photoreceptors, leading to loss of central and daytime vision. Mutations in over 300 genes cause RP. Many of these...

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Source

Identifiers

PMID: 42593897
DOI: 10.1093/hmg/ddag077

Genes

SNRNP200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.PMID 42593897Read ↗

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondSemantic proximity Read ↗

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Semantic proximity Read ↗

Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.Semantic proximity Read ↗

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.Semantic proximity Read ↗

PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.Semantic proximity Read ↗

Mutations in the <i>Drosophila</i> splicing regulator <i>Prp31</i> as a model for Retinitis pigmentosa 11Semantic proximity Read ↗

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Splicing-related Retinitis Pigmentosa mutations mimicked in <i>C. elegans</i> allow the identification of disease modifiers and drug screensSemantic proximity Read ↗

A genome-wide in vivo CRISPR screen identifies neuroprotective strategies in the mouse and human retina.Semantic proximity Read ↗

[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].Semantic proximity Read ↗

Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila.Semantic proximity Read ↗

Alternative splicing and retinal degeneration.Semantic proximity Read ↗

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