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- W2274018744 abstract "BackgroundIn Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac fabry mutation (IVS4 + 919G >A). The common cardiac variant fabry mutation, IVS4+919G >A, affects the splicing of GLA RNA by introducing a 57-nucleotide insertion between exons 4 and 5 that contains a stop codon and leads to a truncated protein and inactive enzyme. And this mutation affected males have up to 10% residual enzyme activity and present clinically with late-onset hypertrophic cardiomyopathy. Due to the high cost of enzyme replacement therapy and the large number of patients with this mutation, the development of alternative therapies is essential. Several low-molecular-mass compounds, such as histone deacetylase inhibitors or kinase/phosphatase inhibitors, have been identified as modulators of alternative splicing. It may offer a potential alternative to enzyme replacement therapy. We expect to find out a more economic and effective drug by the detailed study of the mechanism of the small molecule modulators on the IVS4+919G >A mutation for the greater benefits of patients with this mutation." @default.
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- W2274018744 date "2015-06-09" @default.
- W2274018744 modified "2023-09-27" @default.
- W2274018744 title "AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation" @default.
- W2274018744 doi "https://doi.org/10.3978/j.issn.2305-5839.2015.ab171" @default.
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