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Mutations in genes encoding proteins essential for the geranylgeranylation reaction, Rab escort protein and Rab geranylgeranyl transferase, underlie genetic diseases. Choroideremia patients have loss of function mutations in REP1 and the murine Hermansky\u2013Pudlak syndrome model <jats:italic>gunmetal<\/jats:italic> possesses a splice\u2010site mutation in the \u03b1\u2010subunit of RGGT. Here we discuss recent insights into Rab prenylation and advances towards our understanding of both diseases.<\/jats:p>","DOI":"10.1016\/s0014-5793(01)02483-8","type":"journal-article","created":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T19:51:15Z","timestamp":1027626675000},"page":"197-200","source":"Crossref","is-referenced-by-count":143,"title":["Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease"],"prefix":"10.1002","volume":"498","author":[{"given":"Jos\u00e9 B","family":"Pereira-Leal","sequence":"first","affiliation":[]},{"given":"Alistair N","family":"Hume","sequence":"additional","affiliation":[]},{"given":"Miguel C","family":"Seabra","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2001,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(99)80067-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(00)01754-2"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/35052055"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.152.4.F21"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2000.4010"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9668"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.10.5289"},{"key":"e_1_2_7_9_1","unstructured":"Spence R.A. anad Casey P.J. 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