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• W2017885537 abstract "In the past few years, research in targeted mutation therapies has experienced significant advances, especially in the field of rare diseases. In particular, the efficacy of antisense therapy for suppression of normal, pathogenic, or cryptic splice sites has been demonstrated in cellular and animal models and has already reached the clinical trials phase for Duchenne muscular dystrophy. In different inherited metabolic diseases, splice switching oligonucleotides (SSOs) have been used with success in patients' cells to force pseudoexon skipping or to block cryptic splice sites, in both cases recovering normal transcript and protein and correcting the enzyme deficiency. However, future in vivo studies require individual approaches for delivery depending on the gene defect involved, given the different patterns of tissue and organ expression. Herein we review the state of the art of antisense therapy targeting RNA splicing in metabolic diseases, grouped according to their expression patterns-multisystemic, hepatic, or in central nervous system (CNS)-and summarize the recent progress achieved in the field of in vivo delivery of oligonucleotides to each organ or system. Successful body-wide distribution of SSOs and preferential distribution in the liver after systemic administration have been reported in murine models for different diseases, while for CNS limited data are available, although promising results with intratechal injections have been achieved." @default.
• W2017885537 created "2016-06-24" @default.
• W2017885537 creator A5001813953 @default.
• W2017885537 creator A5033638665 @default.
• W2017885537 creator A5040246496 @default.
• W2017885537 creator A5059191087 @default.
• W2017885537 date "2014-02-01" @default.
• W2017885537 modified "2023-10-14" @default.
• W2017885537 title "Antisense Mediated Splicing Modulation For Inherited Metabolic Diseases: Challenges for Delivery" @default.
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• W2017885537 doi "https://doi.org/10.1089/nat.2013.0453" @default.
• W2017885537 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3922136" @default.
• W2017885537 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24506780" @default.
• W2017885537 hasPublicationYear "2014" @default.
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