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Zapytanie: MIYAMOTO
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Tytuł oryginału: A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17.
Autorzy: Kowalska Anna, Hasegawa Masato, Miyamoto Katsuichi, Akiguchi Ichiro, Ikemoto Akito, Takahashi Keikichi, Araki Wataru, Tabira Takeshi
Źródło: J. Appl. Genet. 2002: 43 (4) s.535-543, il., tab., bibliogr. s. 542-543
Sygnatura GBL: 305,055

Hasła klasyfikacyjne GBL:
  • psychiatria i psychologia
  • genetyka
  • neurologia

    Typ dokumentu:
  • komunikat
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T - C transition at position +11 of the intron following exon 10 (T - C3'E10 + 11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband's life). The T - C 3'E10 + 11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T - C 3'E10 + 11 mutation as the other 5' splice site mutations of tau exon 10, modifies alternative splicing of exon 10.

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