Show simple item record

dc.contributor.authorPai, Sung-Yunen_US
dc.contributor.authorKim, Chaekyunen_US
dc.contributor.authorWilliams, David A.en_US
dc.date.accessioned2014-03-11T10:17:45Z
dc.date.issued2010en_US
dc.identifier.citationPai, Sung-Yun, Chaekyun Kim, and David A. Williams. 2010. “Rac GTPases in Human Diseases.” Disease markers 29 (3-4): 177-187. doi:10.3233/DMA-2010-0738. http://dx.doi.org/10.3233/DMA-2010-0738.en
dc.identifier.issn0278-0240en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:11879418
dc.description.abstractRho GTPases are members of the Ras superfamily of GTPases that regulate a wide variety of cellular functions. While Rho GTPase pathways have been implicated in various pathological conditions in humans, to date coding mutations in only the hematopoietic specific GTPase, RAC2, have been found to cause a human disease, a severe phagocytic immunodeficiency characterized by life-threatening infections in infancy. Interestingly, the phenotype was predicted by a mouse knock-out of RAC2 and resembles leukocyte adhesion deficiency (LAD). Here we review Rho GTPases with a specific focus on Rac GTPases. In particular, we discuss a new understanding of the unique and overlapping roles of Rac2 in blood cells that has developed since the generation of mice deficient in Rac1, Rac2 and Rac3 proteins. We propose that Rac2 mutations leading to disease be termed LAD type IV.en
dc.language.isoen_USen
dc.publisherIOS Pressen
dc.relation.isversionofdoi:10.3233/DMA-2010-0738en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835286/pdf/en
dash.licenseLAAen_US
dc.subjectRho GTPasesen
dc.subjectRacen
dc.subjectneutrophilsen
dc.subjectleukocyte adhesion deficiencyen
dc.subjectRhoHen
dc.subjectlymphocytesen
dc.titleRac GTPases in Human Diseasesen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalDisease markersen
dash.depositing.authorPai, Sung-Yunen_US
dc.date.available2014-03-11T10:17:45Z
dc.identifier.doi10.3233/DMA-2010-0738*
dash.contributor.affiliatedPai, Sung-Yun
dash.contributor.affiliatedWilliams, David


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record