The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

Lucía Chávez-Gutiérrez; Leen Bammens; Iryna Benilova; Annelies Vandersteen; Manasi Benurwar; Marianne Borgers; Sam Lismont; Lujia Zhou; Simon Van Cleynenbreugel; Hermann Esselmann; Jens Wiltfang; Lutgarde Serneels; Eric Karran; Harrie Gijsen; Joost Schymkowitz; Frederic Rousseau; Kerensa Broersen; Bart De Strooper

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The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

Lucía Chávez-Gutiérrez ^[3] ; Leen Bammens ^[3] ; Iryna Benilova ^[3] ; Annelies Vandersteen ^[1] ; Manasi Benurwar ^[3] ; Marianne Borgers ^[3] ; Sam Lismont ^[3] ; Lujia Zhou ^[3] ; Simon Van Cleynenbreugel ^[3] ; Hermann Esselmann ^[2] ; Jens Wiltfang ^[2] ; Lutgarde Serneels ^[3] ; Eric Karran ^[4] ; Harrie Gijsen ^[5] ; Joost Schymkowitz ^[6] ; Frederic Rousseau ^[7] ; Kerensa Broersen ^[8] ; Bart De Strooper ^[3]
1. [1] University of Twente
  
  University of Twente
  
  Países Bajos
2. [2] University of Duisburg-Essen
  
  University of Duisburg-Essen
  
  Kreisfreie Stadt Essen, Alemania
3. [3] VIB Center for the Biology of Disease, Leuven, Belgium; Center for Human Genetics (CME) and Leuven Institute for Neurodegenerative Diseases (LIND), University of Leuven (KUL), Leuven, Belgium
4. [4] Center for Human Genetics (CME) and Leuven Institute for Neurodegenerative Diseases (LIND), University of Leuven (KUL), Leuven, Belgium
5. [5] Janssen Research & Development, a Division of Janssen Pharmaceutica NV, Beerse, Belgium
6. [6] VIB Switch Laboratory, Flanders Institute for Biotechnology (VIB), Leuven, Belgium; VIB Switch Laboratory, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
7. [7] Switch Laboratory, Department of Cellular and Molecular Medicine, KULeuven, Leuven, Belgium; VIB Switch Laboratory, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
8. [8] Faculty of Science and Technology, MIRA Institute for Biomedical Technology and Technical Medicine, University of Twente, AE Enschede, The Netherlands; Vrije Universiteit Brussel, Brussel, Belgium
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Localización: EMBO journal: European Molecular Biology Organization, ISSN 0261-4189, Vol. 31, Nº. 10, 2012, págs. 2261-2274
Idioma: inglés
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Resumen
- Mutations in presenilin (PSEN) and amyloid precursor protein (APP) cause dominant early-onset Alzheimer's disease (AD), but the mechanism involved is debated. Here, such mutations are shown to alter γ-secretase activity, leading to changes in Aβ peptide cleavage patterns.