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Article

Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice.

The American journal of pathology - 1 Jul 2013

Umeda Tomohiro, Yamashita Takenari, Kimura Tetsuya, Ohnishi Kiyouhisa, Takuma Hiroshi, Ozeki Tomoko, Takashima Akihiko, Tomiyama Takami, Mori Hiroshi

Abstract excerpt

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is a neurodegenerative disorder caused by mutations in the tau gene. Many mutations identified in FTDP-17 have been shown to affect tau exon 10 splicing in vitro, which presumably causes pathologic imbalances in exon 10(-)...

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Identifiers

PMID: 23680655
DOI: 10.1016/j.ajpath.2013.03.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23680655-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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