title: Rab GTPases implicated in inherited and acquired disorders.
abstract: The endocytotic machinery imports, transports and exports receptors and associated molecules between the plasma membrane and various cytoplasmic chambers resulting in selective recycling, degradation, or secretion of molecules and signaling complexes. Trafficking of receptors, growth factors, nutrients, cytokines, integrins as well as pathogens dictates the kinetics and magnitude of signal transduction cascades. Understandably, alterations in the 'fate' of such cargo complexes have profound physiologic and pathophysiologic implications. Rab GTPases regulate endocytosis by decorating intracellular vesicles and targeting these vesicles along with their cargoes to appropriate subcellular compartments. In the last decade, the number of genetic diseases driven by germline mutations in Rab GTPases or their interacting proteins, has increased and there is growing evidence of aberrant Rab GTPase function in acquired pathophysiologies such as immune deficiency, infection, obesity, diabetes and cancer.
authors.affiliation: Department of Systems Biology, The University of Texas, MD Anderson Cancer Center, Houston, TX 77054-1942, USA. smitra@mdanderson.org
authors.forename: Shreya
authors.initials: S
authors.lastname: Mitra
authors.forename: Kwai W
authors.initials: KW
authors.lastname: Cheng
authors.forename: Gordon B
authors.initials: GB
authors.lastname: Mills
mesh_terms: D000818:Animals; D001692:Biological Transport; D004705:Endocytosis; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D022161:Transport Vesicles / Q000201:enzymology; D020691:rab GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D020691:rab GTP-Binding Proteins