Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa

(2010) Thiran Jayasundera   ARCHIVES OF OPHTHALMOLOGY

The functional effect of pathogenic mutations in Rab escort protein 1

(2009) Y.V. Sergeev et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data

(2009) Markus N. Preising et al.   OPHTHALMOLOGY

Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

(2009) Natalia V. Strunnikova et al.   PLoS One

Rab geranylgeranylation occurs preferentially via the pre-formed REP–RGGT complex and is regulated by geranylgeranyl pyrophosphate

(2008) Rudi A. Baron et al.   BIOCHEMICAL JOURNAL

Structures of RabGGTase–substrate/product complexes provide insights into the evolution of protein prenylation

(2008) Zhong Guo et al.   EMBO JOURNAL

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION