TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis-Reference-Cited by-同舟云学术

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

Published:2014-07-02 Issue:243 Volume:6 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Kleinberger Gernot¹²,Yamanishi Yoshinori³,Suárez-Calvet Marc¹⁴⁵,Czirr Eva⁶⁷,Lohmann Ebba⁸⁹¹⁰,Cuyvers Elise¹¹¹²,Struyfs Hanne¹³,Pettkus Nadine¹,Wenninger-Weinzierl Andrea¹⁴,Mazaheri Fargol¹⁴,Tahirovic Sabina¹⁴,Lleó Alberto⁴⁵,Alcolea Daniel⁴⁵,Fortea Juan⁴⁵,Willem Michael¹,Lammich Sven¹,Molinuevo José L.¹⁵,Sánchez-Valle Raquel¹⁵,Antonell Anna¹⁵,Ramirez Alfredo¹⁶¹⁷,Heneka Michael T.¹⁸¹⁹,Sleegers Kristel¹¹¹²,van der Zee Julie¹¹¹²,Martin Jean-Jacques²⁰,Engelborghs Sebastiaan¹³²¹,Demirtas-Tatlidede Asli⁸,Zetterberg Henrik²²²³,Van Broeckhoven Christine¹¹¹²,Gurvit Hakan⁸,Wyss-Coray Tony⁶⁷²⁴,Hardy John²³,Colonna Marco³,Haass Christian¹²¹⁴

Affiliation:

1. Adolf-Butenandt Institute, Biochemistry, Ludwig-Maximilians University Munich, 80336 Munich, Germany.

2. Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany.

3. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.

4. Department of Neurology, Institut d’Investigacions Biomèdiques, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.

5. Center for Networked Biomedical Research for Neurodegenerative Diseases, CIBERNED, 28031 Madrid, Spain.

6. Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.

7. Center for Tissue Regeneration, Repair and Restoration, Veterans Administration Palo Alto Health Care System, Palo Alto, CA 94304, USA.

8. Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.

9. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

10. German Center for Neurodegenerative Diseases (DZNE), Tübingen, 72076 Tübingen, Germany.

11. Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium.

12. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.

13. Reference Center for Biological Markers of Dementia, Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.

14. German Center for Neurodegenerative Diseases (DZNE), Munich, 80336 Munich, Germany.

15. Alzheimer’s Disease and Other Cognitive Disorders Unit, Neurology Service, ICN Hospital Clinic i Universitari, 08036 Barcelona, Spain.

16. Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany.

17. Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.

18. Universitätsklinikum Bonn, Neurology, 53127 Bonn, Germany.

19. German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.

20. Antwerp Biobank, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.

21. Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA), Middelheim and Hoge Beuken, 2020 Antwerp, Belgium.

22. Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at the University of Gothenburg, S-431 80 Mölndal, Sweden.

23. Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK.

24. Neuroscience IDP Program, Stanford University School of Medicine, Stanford, CA 94305, USA.

Abstract

Loss of TREM2 function impairs phagocytosis and correlates with decreased soluble TREM2 in biological fluids of patients with neurodegenerative disorders.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference48 articles.

1. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2

2. Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

3. A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

4. TREM2 Variants in Alzheimer's Disease

5. Variant ofTREM2Associated with the Risk of Alzheimer's Disease

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