Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

We recently reported that the intronic splice-site mutation IVS3-8G>A of CHRNA1 that encodes the muscle nicotinic acetylcholine receptor α subunit disrupts binding of a splicing repressor, hnRNP H. This, in turn, results in exclusive inclusion of the downstream exon P3A. The P3A(+) transcript enc...

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Hlavní autoři: Bian, Yang, Masuda, Akio, Matsuura, Tohru, Ito, Mikako, Okushin, Kazuya, Engel, Andrew G., Ohno, Kinji
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2655771/
https://ncbi.nlm.nih.gov/pubmed/19147685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp023
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