Linked Life Data

11412856

Source:http://linkedlifedata.com/resource/pubmed/id/11412856

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2001-6-19
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0014-5793
pubmed:author
pubmed:issnType
Print
pubmed:day
8
pubmed:volume
498
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
197-200
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.
pubmed:affiliation
Cell and Molecular Biology Section, Division of Biomedical Sciences, Imperial College School of Medicine, Sir Alexander Fleming Building, Exhibition Road, SW7 2AZ, London, UK.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't