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New insights into the pathogenesis of choroideremia: a tale of two REPs

Data up to Jan 2025

Published1996
Citations60
References22

Total Citations Per Year

Abstract

References (22)

Protein Prenyltransferases

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GTPases: Multifunctional Molecular Switches Regulating Vesicular Traffic

1994 • 411 citations

Retinal Degeneration in Choroideremia: Deficiency of Rab Geranylgeranyl Transferase

1993 • 325 citations

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

1993 • 322 citations

Cloning of a gene that is rearranged in patients with choroideraemia

1990 • 318 citations

Purification of component A of Rab geranylgeranyl transferase: Possible identity with the choroideremia gene product

1992 • 296 citations

Role of Protein Modification Reactions in Programming Interactions Between Ras-Related GTPases and Cell Membranes

1994 • 279 citations

Rab GDP Dissociation Inhibitor: Putting Rab GTPases in the Right Place

1995 • 240 citations

Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia

1995 • 215 citations

REP-2, a Rab escort protein encoded by the choroideremia-like gene.

1994 • 183 citations

Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

1997 • 169 citations

Cloning and characterization of the human choroideremia gene

1994 • 158 citations

Retinal Dystrophies and Degenerations

1989 • 146 citations

Krill's Hereditary Retinal and Choroidal Diseases

1978 • 97 citations

An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1q

1992 • 70 citations

A hereditary and clinical study of choroideremia.

1948 • 67 citations

Mode of Inheritance in Chorioideremia

1942 • 40 citations

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1988 • 34 citations

CHORIOIDEREMIE ALS ERBMERKMAL

1942 • 30 citations

Mutation analysis in Canadian families with choroideremia

1996 • 26 citations

Phenotype variations within a choroideremia family lacking the entire CHM gene

1995 • 26 citations

CHOROIDEREMIA

1937 • 10 citations

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New insights into the pathogenesis of choroideremia: a tale of two REPs (1996) – Ophthalmic Genetics | Metascience Observatory Explorer