FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10.

@article{Hasegawa1999FTDP17MN,
  title={FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10.},
  author={Minoru Hasegawa and Margaret Jeanel Russell Smith and Masasaki Iijima and Takeshi Tabira and Michel Goedert},
  journal={FEBS letters},
  year={1999},
  volume={443 2},
  pages={
          93-6
        }
}
Missense mutations and intronic mutations in the tau gene cause frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). Known missense mutations reduce the ability of tau to promote microtubule assembly. Intronic mutations lead to increased mRNA splicing of the alternatively spliced exon 10, resulting in an overproduction of tau isoforms with four microtubule-binding repeats. We show here that the recently identified FTDP-17 missense mutations N279K and S305N do not reduce… CONTINUE READING
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