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Article

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Journal of genetics - 1 Dec 2009

Murga-Zamalloa Carlos A, Swaroop Anand, Khanna Hemant

Abstract excerpt

Dysfunction of primary cilia due to mutations in cilia-centrosomal proteins is associated with pleiotropic disorders. The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%-20% of simplex RP males. Accumulating evidence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20090203
DOI: 10.1007/s12041-009-0061-7
PMCID: PMC3464916

Genes

RPGR
PGR

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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RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.PMID 20090203Read ↗

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Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.Semantic proximity Read ↗

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