SR protein 9G8 modulates splicing of tau exon 10 via its proximal downstream intron, a clustering region for frontotemporal dementia mutations

L Gao, J Wang, Y Wang, A Andreadis - Molecular and Cellular …, 2007 - Elsevier
The microtubule-associated protein tau is important to normal neuronal function in the
mammalian nervous system. Aggregated tau is the major component of neurofibrillary
tangles (NFTs), present in several neurodegenerative diseases, including Alzheimer's and
frontotemporal dementia with Parkinsonism (FTDP). Splicing misregulation of adult-specific
exon 10 results in expression of abnormal ratios of tau isoforms, leading to FTDP. Positions+
3 to+ 16 of the intron downstream of exon 10 define a clustering region for point mutations …
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