Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
Abstract
:1. Introduction
2. Materials and Methods
2.1. Biological Material
2.2. Cycloheximide Treatment of Control and Patient Fibroblasts
2.3. Antisense Oligonucleotide Treatment and Analysis
2.4. CSTB Protein Immunodetection
3. Results
3.1. The CSTB c.66G>A Mutation Generates One Aberrant Transcript in Unverricht-Lundborg Disease Patient
3.2. Correction of CSTB Mutation-Induced Missplicing Using an Locked Nucleic Acid Oligonucleotide in Patient-Derived Fibroblasts
4. Discussion
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Matos, L.; Duarte, A.J.; Ribeiro, D.; Chaves, J.; Amaral, O.; Alves, S. Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy. Genes 2018, 9, 455. https://doi.org/10.3390/genes9090455
Matos L, Duarte AJ, Ribeiro D, Chaves J, Amaral O, Alves S. Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy. Genes. 2018; 9(9):455. https://doi.org/10.3390/genes9090455
Chicago/Turabian StyleMatos, Liliana, Ana Joana Duarte, Diogo Ribeiro, João Chaves, Olga Amaral, and Sandra Alves. 2018. "Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy" Genes 9, no. 9: 455. https://doi.org/10.3390/genes9090455