WUH-LIANG HWULee Y.-M.NI-CHUNG LEE2020-12-092020-12-0920171744-6651https://www.scopus.com/inward/record.uri?eid=2-s2.0-85019083254&doi=10.1080%2f17446651.2017.1316191&partnerID=40&md5=74b8fc02bb27a106910cd9734f9cc613https://scholars.lib.ntu.edu.tw/handle/123456789/525104Introduction: More than 15% of all disease-causing mutations result in mRNA splicing defects. U1 snRNA binds to the 5? splice site (5’ss) through base pairing. Mutation-adapted U1 snRNA (with compensatory U1 snRNA changes) and exon-specific U1 snRNA (complementary to intronic sequences) have been shown to suppress 5’ss mutations in cellular and animal models. Areas covered: The history, mechanism of action, and efficacy of U1 snRNA-mediated gene therapy are covered. The clinical utility of this technology and its limitations will be discussed. Expert commentary: Recently, gene therapies with mutation-adapted U1 snRNAs have been conducted on animal models, including aromatic l-amino acid decarboxylase deficiency and spinal muscular atrophy. However, although U1-mediated therapy has the advantage of maintaining the regulated expression of defective genes, its accuracy and efficacy needs to be improved before clinical application of this technique is possible. ? 2017 Informa UK Limited, trading as Taylor & Francis Group.[SDGs]SDG3small nuclear ribonucleoprotein; animal model; exon; gene mutation; genetic disorder; human; molecular pathology; nonhuman; nonviral gene therapy; priority journal; Review; RNA sequence; RNA splicingreview10.1080/17446651.2017.1316191300634592-s2.0-85019083254