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The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

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

Hasegawa, Masato, Smith, Michael J, Iijima, Masaaki, Tabira, Takeshi, Goedert, Michel·1999·FEBS Letters
DOI 10.1016/s0014-5793(98)01696-2
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Abstract

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 the ability of tau to promote microtubule assembly. Instead they lead to increased splicing of exon 10, like the intronic mutations. The N279K and S305N mutations define a class of missense mutations in tau whose primary effects are at the RNA level.

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Crossref · 10.1016/s0014-5793(98)01696-2

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Citations

Cites

Research works printed but not linked: 21

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  11. 10.1016/S0002-9440(10)65721-5 · DOI
  12. 10.1007/s004010050487 · DOI · Paper page
  13. 10.1126/science.282.5395.1914 · DOI
  14. 10.1073/pnas.95.22.13103 · DOI
  15. Iijima M. Tabira T. Poorkaj P. Schellenberg G.D. Trojanowski J.Q. Lee V.M.-Y. Schmidt M.L. Takahashi K. Nabika T. Matsumoto T. Yamashita Y. Yoshioka S. and Ishino H. (1999) NeuroReport (in press).
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  17. 10.1101/gad.7.12a.2405 · DOI
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  21. 10.1097/00005072-199806000-00006 · DOI

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Metadata

Authors
Hasegawa, M., Smith, M. J., Iijima, M., Tabira, T., & Goedert, M.
Venue
FEBS Letters
Publisher
Wiley
Published
1999-01-29
Volume
443
Issue
2
Pages
93-96
ISSN
  • 0014-5793
  • 1873-3468
DOI
10.1016/s0014-5793(98)01696-2
Cited by
184
References
2
Language
en
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 12 d)

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