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Article

Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.

Investigative ophthalmology & visual science - 1 Jun 2009

Moosajee Mariya, Tulloch Merrin, Baron Rudi A, Gregory-Evans Cheryl Y, Pereira-Leal José B, Seabra Miguel C

Abstract excerpt

PURPOSE: Mutations of the CHM gene underlie the X-linked chorioretinal degeneration choroideremia (CHM). The affected gene product, Rab Escort Protein (REP)1, mediates the posttranslational prenyl modification of Rab GTPases. In patients with CHM, the related REP2 partially compensates for the loss of function of REP1. The objective of this investigation was to study the natural history of disease in a zebrafish...

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Source

Identifiers

PMID: 19117920
DOI: 10.1167/iovs.08-2755

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.PMID 19117920Read ↗

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Chronically shortened rod outer segments accompany photoreceptor cell death in ChoroideremiaSemantic proximity Read ↗

Loss of REP1 impacts choroidal melanogenesis in choroideremiaSemantic proximity Read ↗

Choroideremia: a review of general findings and pathogenesis.Semantic proximity Read ↗

Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.Semantic proximity Read ↗

New type of mutations in three spanish families with choroideremia.Semantic proximity Read ↗

Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatmentSemantic proximity Read ↗

The functional effect of pathogenic mutations in Rab escort protein 1.Semantic proximity Read ↗

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.Semantic proximity Read ↗

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