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Article

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.

Science (New York, N.Y.) - 15 Jan 1993

Seabra M C, Brown M S, Goldstein J L

Abstract excerpt

Rab geranylgeranyl transferase (GG transferase) is a two-component enzyme that attaches 20-carbon isoprenoid groups to cysteine residues in Rab proteins, a family of guanosine triphosphate-binding proteins that regulate vesicular traffic. The mutant gene in human choroideremia, an X-linked form of retinal degeneration, encodes a protein that resembles component A of rat Rab GG transferase. Lymphoblasts from...

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Source

Identifiers

PMID: 8380507
DOI: 10.1126/science.8380507

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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.

Related research

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Research trail→

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Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.PMID 8380507Read ↗

Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product.Semantic proximity Read ↗

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

Choroideremia: molecular mechanisms and development of AAV gene therapy.Semantic proximity Read ↗

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

Choroideremia: molecular mechanisms and therapies.Semantic proximity Read ↗

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosisSemantic proximity Read ↗

Choroideremia gene testingSemantic proximity Read ↗

Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.Semantic proximity Read ↗

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

Genetic Analysis of Choroideremia-Related Rab Escort Proteins.Semantic proximity Read ↗

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatmentsSemantic proximity Read ↗

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disordersSemantic proximity Read ↗

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