title: Modulation of aberrant splicing in human RNA diseases by chemical compounds.
abstract: Pre-mRNA splicing is an essential step for gene expression in higher eukaryotes. Alternative splicing contributes to diversity of the expressed proteins from the limited number of genes. Disruption of splicing regulation often results in hereditary and sporadic diseases called as 'RNA diseases'. Modulation of splicing by small chemical compounds and nucleic acids has been tried to target aberrant splicing in those diseases. Several RNA diseases and splicing-target therapeutic approaches will be briefly introduced in this review. Accumulating knowledge about molecular mechanism of aberrant splicing and their correction by chemical compounds is important not only for RNA biologists, but also for clinicians who desire therapies for those diseases.
authors.affiliation: Laboratory of Cell Regulation, Departments of Applied Animal Sciences and Applied Biological Chemistry, Graduate School of Agriculture and Life Sciences, The University of Tokyo, Tokyo, Japan. akataoka@mail.ecc.u-tokyo.ac.jp.
authors.forename: Naoyuki
authors.identifier: 0000-0002-4498-7420
authors.initials: N
authors.lastname: Kataoka
mesh_terms: D030342:Genetic Diseases, Inborn / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D012326:RNA Splicing / Q000187:drug effects* / Q000235:genetics*
keywords: Aberrant Splice; Duchenne Muscular Dystrophy; Exonic Splice Enhancer; Familial Dysautonomia; Spinal Muscular Atrophy