Article
Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.
The Journal of biological chemistry - 23 May 2003
Jiang Zhihong, Tang Hao, Havlioglu Necat, Zhang Xiaochun, Stamm Stefan, Yan Riqiang, Wu Jane Y
Abstract excerpt
Mutations in the human tau gene leading to aberrant splicing have been identified in FTDP-17, an autosomal dominant hereditary neurodegenerative disorder. Molecular mechanisms by which such mutations cause tau aberrant splicing were not understood. We characterized two mutations in exon 10 of the tau gene, N279K and Del280K. Our results revealed an exonic splicing enhancer element located in exon 10. The activity...
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