Article: Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.
2001 Volume 498, Issue 2-3, Page(s) 197–200
Abstract: ... protein and Rab geranylgeranyl transferase, underlie genetic diseases. Choroideremia patients have loss ... mutation in the alpha-subunit of RGGT. Here we discuss recent insights into Rab prenylation and advances ... Small GTPases of the Rab family regulate membrane transport pathways. More than 50 mammalian Rab ...
| Abstract | Small GTPases of the Rab family regulate membrane transport pathways. More than 50 mammalian Rab proteins are known, many with transport step-specific localisation. Rabs must associate with cellular membranes for activity and membrane attachment is mediated by prenyl (geranylgeranyl) post-translational modification. 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-Pudlak syndrome model gunmetal possesses a splice-site mutation in the alpha-subunit of RGGT. Here we discuss recent insights into Rab prenylation and advances towards our understanding of both diseases. |
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| MeSH term(s) | Adaptor Proteins, Signal Transducing ; Alkyl and Aryl Transferases/metabolism ; Amino Acid Motifs ; Animals ; Choroideremia/genetics ; Choroideremia/metabolism ; Hermanski-Pudlak Syndrome/genetics ; Hermanski-Pudlak Syndrome/metabolism ; Humans ; Mice ; Mutation ; Protein Prenylation ; rab GTP-Binding Proteins/genetics ; rab GTP-Binding Proteins/metabolism | |||||
| Chemical Substances | Adaptor Proteins, Signal Transducing ; CHM protein, human ; Alkyl and Aryl Transferases (EC 2.5.-) ; Rab geranylgeranyltransferase (EC 2.5.1.-) ; rab GTP-Binding Proteins (EC 3.6.5.2) | |||||
| Language | English | |||||
| Publishing date | 2001-06-08 | |||||
| Publishing country | England | |||||
| Document type | Journal Article ; Research Support, Non-U.S. Gov't ; Review | |||||
| ZDB-ID | 212746-5 | |||||
| ISSN | 1873-3468 ; 0014-5793 | |||||
| ISSN (online) | 1873-3468 | |||||
| ISSN | 0014-5793 | |||||
| DOI | 10.1016/s0014-5793(01)02483-8 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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