Boettner, B., Van Aelst, L. (March 2002) The role of Rho GTPases in disease development. Gene, 286 (2). pp. 155-74. ISSN 0378-1119 (Print)
Abstract
The functionality and efficacy of Rho GTPase signaling is pivotal for a plethora of biological processes. Due to the integral nature of these molecules, the dysregulation of their activities can result in diverse aberrant phenotypes. Dysregulation can, as will be described below, be based on an altered signaling strength on the level of a specific regulator or that of the respective GTPase itself. Alternatively, effector pathways emanating from a specific Rho GTPase may be under- or overactivated. In this review, we address the role of the Rho-type GTPases as a subfamily of the Ras-superfamily of small GTP-binding proteins in the development of various disease phenotypes. The steadily growing list of genetic alterations that specifically impinge on proper Rho GTPase function corresponds to pathological categories such as cancer progression, mental disabilities and a group of quite diverse and unrelated disorders. We will provide an overview of disease-rendering mutations in genes that have been positively correlated with Rho GTPase signaling and will discuss the cellular and molecular mechanisms that may be affected by them.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | Animals Deafness/genetics Humans Neoplasms/ genetics Neurodegenerative Diseases/ genetics Tangier Disease/genetics Wiskott-Aldrich Syndrome/genetics rho GTP-Binding Proteins/ genetics/physiology |
| Subjects: | diseases & disorders bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > GTPase bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > G protein > Rho bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types |
| CSHL Authors: | |
| Communities: | CSHL labs > Van Aelst lab |
| Depositing User: | Matt Covey |
| Date: | 20 March 2002 |
| Date Deposited: | 18 Dec 2013 20:24 |
| Last Modified: | 18 Dec 2013 20:24 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/28673 |
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