title: Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.
abstract: Alternative splicing is an important regulator of the transcriptome. However, mutations may cause alteration of splicing patterns, which in turn leads to disease. During the past 10 years, exon skipping has been looked upon as a powerful tool for correction of missplicing in disease and progress has been made towards clinical trials. In this review, we discuss the use of antisense oligonucleotides to correct splicing defects through exon skipping, with a special focus on diseases affecting the nervous system, and the latest stage achieved in its progress.
authors: 1 Center for Integrative Biology (CIBIO), University of Trento , Trento, Italy .
authors: Kavitha
authors: K
authors: Siva
authors: Giuseppina
authors: G
authors: Covello
authors: Michela A
authors: MA
authors: Denti
mesh_terms: D000818:Animals; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000628:therapy; D001812:Blood-Brain Barrier; D018981:Congenital Disorders of Glycosylation / Q000235:genetics / Q000628:therapy; D003560:Cysts / Q000235:genetics / Q000628:therapy; D016503:Drug Delivery Systems; D005091:Exons; D057180:Frontotemporal Dementia / Q000235:genetics / Q000628:therapy; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000628:therapy*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics / Q000628:therapy; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000628:therapy; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics* / Q000628:therapy*; D017253:Neurofibromatoses / Q000235:genetics / Q000628:therapy; D052556:Niemann-Pick Disease, Type C / Q000235:genetics / Q000628:therapy; D016376:Oligonucleotides, Antisense / Q000737:chemistry / Q000235:genetics* / Q000627:therapeutic use*; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics / Q000628:therapy; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics; D012326:RNA Splicing; D052416:Targeted Gene Repair / Q000379:methods*
chemical_list: D016376:Oligonucleotides, Antisense; D017875:Phosphotransferases (Phosphomutases)