title: Emerging role of Cdc42-specific guanine nucleotide exchange factors as regulators of membrane trafficking in health and disease.
abstract: It is widely accepted that the Golgi complex operates as a main sorting station in the biosynthetic pathway. On the other hand, the Golgi complex harbors numerous signaling molecules that generate the platform for the coordination of the transduction of specific signals and of membrane transport events. A part of these processes, which require the complex integration of transport-, cytoskeleton- and polarity-associated mechanisms, is tightly regulated by molecular machineries comprising guanine nucleotide exchange factors (GEF) and their down-stream effectors, such as the small GTPase Cdc42. Dysfunction of several Cdc42-specific GEFs has been shown to cause a number of human diseases, which are associated with impaired intracellular trafficking at the level of the Golgi complex as well as in other compartments. Here we briefly overview how mutations in Cdc42-specific GEFs have an impact on the organization of intracellular trafficking fluxes and how such trafficking aberrations could be associated with a number of human disorders.
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. Electronic address: mihvegorov@gmail.com.
authors.forename: M V
authors.initials: MV
authors.lastname: Egorov
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. Electronic address: polish@tigem.it.
authors.forename: R S
authors.initials: RS
authors.lastname: Polishchuk
mesh_terms: D006056:Golgi Apparatus / Q000235:genetics* / Q000378:metabolism; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D021381:Protein Transport / Q000235:genetics; D020764:cdc42 GTP-Binding Protein / Q000235:genetics* / Q000378:metabolism
chemical_list: D020662:Guanine Nucleotide Exchange Factors; D026901:Membrane Transport Proteins; D020764:cdc42 GTP-Binding Protein
keywords: CDC42; GEF; Genetic diseases; Golgi; Membrane trafficking