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A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

Author

Listed:
  • Thorlakur Jonsson

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Jasvinder K. Atwal

    (Genentech, 1 DNA Way)

  • Stacy Steinberg

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Jon Snaedal

    (Landspitali University Hospital, 101 Reykjavik, Iceland)

  • Palmi V. Jonsson

    (Landspitali University Hospital, 101 Reykjavik, Iceland
    University of Iceland, Faculty of Medicine, 101 Reykjavik, Iceland)

  • Sigurbjorn Bjornsson

    (Landspitali University Hospital, 101 Reykjavik, Iceland)

  • Hreinn Stefansson

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Patrick Sulem

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Daniel Gudbjartsson

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Janice Maloney

    (Genentech, 1 DNA Way)

  • Kwame Hoyte

    (Genentech, 1 DNA Way)

  • Amy Gustafson

    (Genentech, 1 DNA Way)

  • Yichin Liu

    (Genentech, 1 DNA Way)

  • Yanmei Lu

    (Genentech, 1 DNA Way)

  • Tushar Bhangale

    (Genentech, 1 DNA Way)

  • Robert R. Graham

    (Genentech, 1 DNA Way)

  • Johanna Huttenlocher

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Institute for Human Genetics, 72026 Tübingen, Germany)

  • Gyda Bjornsdottir

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Ole A. Andreassen

    (Ullevål University Hospital and Institute of Psychiatry, University of Oslo, N-0407 Oslo, Norway)

  • Erik G. Jönsson

    (HUBIN project, Karolinska Institutet and Hospital, SE-171 76 Stockholm, Sweden)

  • Aarno Palotie

    (University of Helsinki, 00014 Helsinki, Finland)

  • Timothy W. Behrens

    (Genentech, 1 DNA Way)

  • Olafur T. Magnusson

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Augustine Kong

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland)

  • Unnur Thorsteinsdottir

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland
    University of Iceland, Faculty of Medicine, 101 Reykjavik, Iceland)

  • Ryan J. Watts

    (Genentech, 1 DNA Way)

  • Kari Stefansson

    (deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland
    University of Iceland, Faculty of Medicine, 101 Reykjavik, Iceland)

Abstract

A coding mutation in APP, the gene that encodes the amyloid-β precursor protein, is found to protect against Alzheimer’s disease and cognitive decline in the elderly without Alzheimer’s disease.

Suggested Citation

  • Thorlakur Jonsson & Jasvinder K. Atwal & Stacy Steinberg & Jon Snaedal & Palmi V. Jonsson & Sigurbjorn Bjornsson & Hreinn Stefansson & Patrick Sulem & Daniel Gudbjartsson & Janice Maloney & Kwame Hoyt, 2012. "A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline," Nature, Nature, vol. 488(7409), pages 96-99, August.
    • Handle: RePEc:nat:nature:v:488:y:2012:i:7409:d:10.1038_nature11283
    DOI: 10.1038/nature11283
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    Cited by:

    1. Snaedis Kristmundsdottir & Hakon Jonsson & Marteinn T. Hardarson & Gunnar Palsson & Doruk Beyter & Hannes P. Eggertsson & Arnaldur Gylfason & Gardar Sveinbjornsson & Guillaume Holley & Olafur A. Stefa, 2023. "Sequence variants affecting the genome-wide rate of germline microsatellite mutations," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    2. Vanitha Nithianandam & Hassan Bukhari & Matthew J. Leventhal & Rachel A. Battaglia & Xianjun Dong & Ernest Fraenkel & Mel B. Feany, 2023. "Integrative analysis reveals a conserved role for the amyloid precursor protein in proteostasis during aging," Nature Communications, Nature, vol. 14(1), pages 1-19, December.
    3. Zhang, Yongxin & Dong, Mingyan & Li, Bai-Lian & Sun, Gui-Quan, 2024. "Analysis for a model incorporating γ−secretase inhibitor to explore the mechanism of ‘Amyloid-β rise’," Chaos, Solitons & Fractals, Elsevier, vol. 183(C).

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