title: RNA-binding proteins in human genetic disease.
abstract: RNA-binding proteins (RBPs) are key components in RNA metabolism, regulating the temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has profound implications for cellular physiology, affecting RNA processes from pre-mRNA splicing to protein translation. Recent genetic and proteomic data and evidence from animal models reveal that RBPs are involved in many human diseases ranging from neurologic disorders to cancer. Here we review the emerging evidence showing the involvement of RBPs in many disease networks and conclude that defects in RNA metabolism caused by aberrations in RBPs might underlie a broader spectrum of complex human disorders.
authors.affiliation: Terry Fox Molecular Oncology Group, and the Bloomfield Center for Research on Aging, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Department of Medicine, McGill University, Montréal, Québec H3T 1E2, Canada.
authors.forename: Kiven E
authors.initials: KE
authors.lastname: Lukong
authors.forename: Kai-wei
authors.initials: KW
authors.lastname: Chang
authors.forename: Edouard W
authors.initials: EW
authors.lastname: Khandjian
authors.forename: Stéphane
authors.initials: S
authors.lastname: Richard
mesh_terms: D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D008954:Models, Biological; D008958:Models, Molecular; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics; D009369:Neoplasms / Q000235:genetics; D020364:Paraneoplastic Polyneuropathy / Q000235:genetics; D012313:RNA / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*
chemical_list: D016601:RNA-Binding Proteins; D012313:RNA