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Article

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.

Journal of neuropathology and experimental neurology - 1 Jan 2007

van Swieten John C, Bronner Iraad F, Azmani Asma, Severijnen Lies-Anne, Kamphorst Wouter, Ravid Rivka, Rizzu Patrizia, Willemsen Rob, Heutink Peter

Abstract excerpt

Tau mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) are associated with changes in alternative splicing of exon 10. The DeltaK280 mutation in exon 10 is exceptional because in vitro observations suggest a dramatic effect on microtubule binding, enhanced self-aggregation, as well as a decrease of the 4R/3R ratio by the ablation of an exon splicing enhancer element. Using...

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PMID: 17204933
DOI: 10.1097/nen.0b013e31802c39a4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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