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Rab and Arf Proteins in Genetic Diseases
Author(s) -
Seixas Elsa,
Barros Mafalda,
Seabra Miguel C.,
Barral Duarte C.
Publication year - 2013
Publication title -
traffic
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.677
H-Index - 130
eISSN - 1600-0854
pISSN - 1398-9219
DOI - 10.1111/tra.12072
Subject(s) - rab , biology , adp ribosylation factor , microbiology and biotechnology , gtpase , effector , gtp binding protein regulators , transport protein , vesicular transport protein , guanine nucleotide exchange factor , membrane protein , gtpase activating protein , dna binding protein , protein family , genetics , gene , g protein , transcription factor , golgi apparatus , signal transduction , vesicle , endoplasmic reticulum , membrane
Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies.