title: Repeat expansion diseases: when a good RNA turns bad.
abstract: An increasing number of dominantly inherited diseases have now been linked with expansion of short repeats within specific genes. Although some of these expansions affect protein function or result in haploinsufficiency, a significant portion cause pathogenesis through production of toxic RNA molecules that alter cellular metabolism. In this review, we examine the criteria that influence toxicity of these mutant RNAs and discuss new developments in therapeutic approaches.
authors.affiliation: Department of Microbiology, Immunology & Pathology, Colorado State University, Fort Collins, CO 80523, USA.
authors.forename: Alexa M
authors.initials: AM
authors.lastname: Dickson
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Wilusz
mesh_terms: D000818:Animals; D042622:DNA Repeat Expansion / Q000235:genetics*; D004194:Disease / Q000235:genetics*; D005786:Gene Expression Regulation / Q000235:genetics; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D014176:Protein Biosynthesis / Q000235:genetics; D012313:RNA / Q000235:genetics* / Q000502:physiology* / Q000633:toxicity*; D038621:Regulatory Sequences, Ribonucleic Acid / Q000235:genetics / Q000502:physiology
chemical_list: D038621:Regulatory Sequences, Ribonucleic Acid; D012313:RNA