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TREM2 mutations imp...
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
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Kleinberger, G. (author)
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Yamanishi, Y. (author)
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Suarez-Calvet, M. (author)
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Czirr, E. (author)
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Lohmann, E. (author)
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Cuyvers, E. (author)
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Struyfs, H. (author)
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Pettkus, N. (author)
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Wenninger-Weinzierl, A. (author)
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Mazaheri, F. (author)
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Tahirovic, S. (author)
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Lleo, A. (author)
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Alcolea, D. (author)
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Fortea, J. (author)
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Willem, M. (author)
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Lammich, S. (author)
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Molinuevo, J. L. (author)
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Sanchez-Valle, R. (author)
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Antonell, A. (author)
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Ramirez, A. (author)
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Heneka, M. T. (author)
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Sleegers, K. (author)
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van der Zee, J. (author)
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Martin, J. J. (author)
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Engelborghs, S. (author)
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Demirtas-Tatlidede, A. (author)
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- Zetterberg, Henrik, 1973 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Van Broeckhoven, C. (author)
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Gurvit, H. (author)
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Wyss-Coray, T. (author)
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Hardy, J. (author)
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Colonna, M. (author)
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Haass, C. (author)
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(creator_code:org_t)
- American Association for the Advancement of Science (AAAS), 2014
- 2014
- English.
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In: Science Translational Medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6234 .- 1946-6242. ; 6:243
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Genetic variants in the triggering receptor expressed on myeloid cells 2 (TREM2) have been linked to Nasu-Hakola disease, Alzheimer's disease (AD), Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia (FTD), and FTD-like syndrome without bone involvement. TREM2 is an innate immune receptor preferentially expressed by microglia and is involved in inflammation and phagocytosis. Whether and how TREM2 missense mutations affect TREM2 function is unclear. We report that missense mutations associated with FTD and FTD-like syndrome reduce TREM2 maturation, abolish shedding by ADAM proteases, and impair the phagocytic activity of TREM2-expressing cells. As a consequence of reduced shedding, TREM2 is virtually absent in the cerebrospinal fluid (CSF) and plasma of a patient with FTD-like syndrome. A decrease in soluble TREM2 was also observed in the CSF of patients with AD and FTD, further suggesting that reduced TREM2 function may contribute to increased risk for two neurodegenerative disorders.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- FRONTOTEMPORAL LOBAR DEGENERATION
- AMYLOID PRECURSOR PROTEIN
- ALZHEIMERS-DISEASE
- RISK-FACTOR
- INTRAMEMBRANE PROTEOLYSIS
- DIAGNOSTIC-CRITERIA
- PROGRANULIN LEVELS
- MICROGLIAL CELLS
- MYELOID
- CELLS-2
- CUTTING EDGE
- Cell Biology
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Kleinberger, G.
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Yamanishi, Y.
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Suarez-Calvet, M ...
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Czirr, E.
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Lohmann, E.
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Cuyvers, E.
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show more...
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Struyfs, H.
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Pettkus, N.
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Wenninger-Weinzi ...
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Mazaheri, F.
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Tahirovic, S.
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Lleo, A.
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Alcolea, D.
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Fortea, J.
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Willem, M.
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Lammich, S.
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Molinuevo, J. L.
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Sanchez-Valle, R ...
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Antonell, A.
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Ramirez, A.
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Heneka, M. T.
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Sleegers, K.
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van der Zee, J.
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Martin, J. J.
-
Engelborghs, S.
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Demirtas-Tatlide ...
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Zetterberg, Henr ...
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Van Broeckhoven, ...
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Gurvit, H.
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Wyss-Coray, T.
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Hardy, J.
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Colonna, M.
-
Haass, C.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Medical Biotechn ...
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and Medical Biotechn ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Science Translat ...
- By the university
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University of Gothenburg