Rare Variants inPLD3Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort-Reference-Cited by-同舟云学术

Rare Variants inPLD3Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Published:2015-10-14 Issue:12 Volume:36 Page:1226-1235
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cacace Rita¹²,Van den Bossche Tobi¹²³,Engelborghs Sebastiaan²⁴,Geerts Nathalie¹²,Laureys Annelies¹²,Dillen Lubina¹²,Graff Caroline⁵⁶,Thonberg Håkan⁵⁶,Chiang Huei-Hsin⁶,Pastor Pau⁷⁸⁹,Ortega-Cubero Sara⁷⁹,Pastor Maria A.⁹¹⁰¹¹,Diehl-Schmid Janine¹²,Alexopoulos Panagiotis¹²,Benussi Luisa¹³,Ghidoni Roberta¹³,Binetti Giuliano¹³,Nacmias Benedetta¹⁴,Sorbi Sandro¹⁴,Sanchez-Valle Raquel¹⁵,Lladó Albert¹⁵,Gelpi Ellen¹⁶,Almeida Maria Rosário¹⁷,Santana Isabel¹⁷,Tsolaki Magda¹⁸,Koutroumani Maria¹⁹,Clarimon Jordi⁹²⁰,Lleó Alberto⁹²⁰,Fortea Juan⁹²⁰,de Mendonça Alexandre²¹,Martins Madalena²¹,Borroni Barbara²²,Padovani Alessandro²²,Matej Radoslav²³²⁴,Rohan Zdenek²³²⁴²⁵,Vandenbulcke Mathieu²⁶²⁷,Vandenberghe Rik²⁶²⁸,De Deyn Peter P.²⁴,Cras Patrick²³,van der Zee Julie¹²,Sleegers Kristel¹²,Van Broeckhoven Christine¹²,

Affiliation:

1. Neurodegenerative Brain Diseases Group; Department of Molecular Genetics, VIB; Antwerp Belgium

2. Institute Born-Bunge; University of Antwerp; Antwerp Belgium

3. Department of Neurology; Antwerp University Hospital (UZA); Edegem Belgium

4. Department of Neurology and Memory Clinic; Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken; Antwerp Belgium

5. Department of Neurobiology, Care Sciences and Society (NVS), Center for Alzheimer Research; Division of Neurogeriatrics, Karolinska Institutet; Huddinge Sweden

6. Department of Geriatric Medicine, Genetics Unit; Karolinska University Hospital; Stockholm Sweden

7. Neurogenetics Laboratory, Division of Neurosciences; Center for Applied Medical Research, Universidad de Navarra; Pamplona Spain

8. Department of Neurology; Hospital Universitari Mutua de Terrassa; Terrassa Barcelona Spain

9. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED); Instituto de Salud Carlos III; Madrid Spain

10. Neuroimaging Laboratory, Division of Neurosciences; Center for Applied Medical Research (CIMA), University of Navarra; Pamplona Spain

11. Department of Neurology, Clínica Universidad de Navarra; University of Navarra School of Medicine; Pamplona Spain

12. Department of Psychiatry and Psychotherapy; Technische Universität München; München Germany

13. Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Istituto Centro San Giovanni di Dio-Fatebenefratelli; Brescia Italy

14. Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA); University of Florence; Florence Italy

15. Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS); Barcelona Spain

16. Neurological Tissue Bank of the Biobanc, Hospital Clinic; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS); Barcelona Spain

17. Center for Neuroscience and Cell Biology; University of Coimbra; Coimbra Portugal

18. 3 Department of Neurology, Medical School; Aristotle University of Thessaloniki; Makedonia Greece

19. Laboratory of Biochemistry, Department of Chemistry; Aristotle University of Thessaloniki; Thessaloniki Greece

20. Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau; Universidad Autònoma de Barcelona; Barcelona Spain

21. Faculty of Medicine and Institute of Molecular Medicine; University of Lisbon; Lisbon Portugal

22. Neurology Unit; University of Brescia; Brescia Italy

23. Center of Clinical Neurosciences, Department of Neurology, First Medical Faculty; Charles University in Prague; Czech Republic

24. Department of Pathology and Molecular Medicine; Thomayer Hospital; Prague Czech Republic

25. Institute of Pathology; Third Medical Faculty of Charles University in Prague; Prague Czech Republic

26. Department of Neurosciences; Faculty of Medicine; KU Leuven Leuven Belgium

27. Department of Old Age Psychiatry and Memory Clinic; University of Leuven; Leuven Belgium

28. Department of Neurology; University Hospitals Leuven; Leuven Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22908/fullpdf

Reference35 articles.

1. Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association;Bettens;J Alzheimers Dis,2010

2. Presenilin-1 uses phospholipase D1 as a negative regulator of beta-amyloid formation;Cai;Proc Natl Acad Sci USA,2006a

3. Phospholipase D1 corrects impaired betaAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons;Cai;Proc Natl Acad Sci USA,2006b

4. Cruchaga & Goate reply;Cruchaga;Nature,2015a

5. Cruchaga & Goate reply;Cruchaga;Nature,2015b

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