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Featured ArticleResearch Articles, Neurobiology of Disease

Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21

Paige Mumford, Justin Tosh, Silvia Anderle, Eleni Gkanatsiou Wikberg, Gloria Lau, Sue Noy, Karen Cleverley, Takashi Saito, Takaomi C. Saido, Eugene Yu, Gunnar Brinkmalm, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Victor Tybulewicz, Elizabeth M.C. Fisher and Frances K. Wiseman
Journal of Neuroscience 17 August 2022, 42 (33) 6453-6468; DOI: https://doi.org/10.1523/JNEUROSCI.0521-22.2022
Paige Mumford
1The UK Dementia Research Institute, University College London, London, WC1N 3BG, United Kingdom
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Justin Tosh
2Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, United Kingdom
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Silvia Anderle
1The UK Dementia Research Institute, University College London, London, WC1N 3BG, United Kingdom
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Eleni Gkanatsiou Wikberg
3Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg S-431 80, Sweden
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Gloria Lau
1The UK Dementia Research Institute, University College London, London, WC1N 3BG, United Kingdom
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Sue Noy
2Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, United Kingdom
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Karen Cleverley
2Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, United Kingdom
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Takashi Saito
4Laboratory for Proteolytic Neuroscience, RIKEN Brain Science Institute, Wako-shi, Saitama Japan, 351-0198
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Takaomi C. Saido
4Laboratory for Proteolytic Neuroscience, RIKEN Brain Science Institute, Wako-shi, Saitama Japan, 351-0198
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Eugene Yu
5Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Children's Guild Foundation Down Syndrome Research Program, Buffalo, New York NY 14263,
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Gunnar Brinkmalm
3Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg S-431 80, Sweden
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Erik Portelius
3Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg S-431 80, Sweden
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Kaj Blennow
3Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg S-431 80, Sweden
6Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal S-43180, Sweden
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Henrik Zetterberg
1The UK Dementia Research Institute, University College London, London, WC1N 3BG, United Kingdom
3Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg S-431 80, Sweden
6Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal S-43180, Sweden
7Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, United Kingdom
8Hong Kong Center for Neurodegenerative Diseases, Hong Kong, China
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Victor Tybulewicz
9The Francis Crick Institute, London, NW1 1AT, United Kingdom
10Department of Immunology and Inflammation, Imperial College, London, W12 0NN, United Kingdom
11LonDownS: London Down Syndrome Consortium
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Elizabeth M.C. Fisher
2Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, United Kingdom
11LonDownS: London Down Syndrome Consortium
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Frances K. Wiseman
1The UK Dementia Research Institute, University College London, London, WC1N 3BG, United Kingdom
11LonDownS: London Down Syndrome Consortium
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The Journal of Neuroscience: 42 (33)
Journal of Neuroscience
Vol. 42, Issue 33
17 Aug 2022
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Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21
Paige Mumford, Justin Tosh, Silvia Anderle, Eleni Gkanatsiou Wikberg, Gloria Lau, Sue Noy, Karen Cleverley, Takashi Saito, Takaomi C. Saido, Eugene Yu, Gunnar Brinkmalm, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Victor Tybulewicz, Elizabeth M.C. Fisher, Frances K. Wiseman
Journal of Neuroscience 17 August 2022, 42 (33) 6453-6468; DOI: 10.1523/JNEUROSCI.0521-22.2022

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Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21
Paige Mumford, Justin Tosh, Silvia Anderle, Eleni Gkanatsiou Wikberg, Gloria Lau, Sue Noy, Karen Cleverley, Takashi Saito, Takaomi C. Saido, Eugene Yu, Gunnar Brinkmalm, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Victor Tybulewicz, Elizabeth M.C. Fisher, Frances K. Wiseman
Journal of Neuroscience 17 August 2022, 42 (33) 6453-6468; DOI: 10.1523/JNEUROSCI.0521-22.2022
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Keywords

  • amyloid precursor protein
  • amyloid-β
  • BACE2
  • Down syndrome
  • DYRK1A

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