TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.

doi:10.1126/scitranslmed.3009093

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Article

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.

Science translational medicine - 2 Jul 2014

Kleinberger Gernot, Yamanishi Yoshinori, Suárez-Calvet Marc, Czirr Eva, Lohmann Ebba, Cuyvers Elise, Struyfs Hanne, Pettkus Nadine, Wenninger-Weinzierl Andrea, Mazaheri Fargol, Tahirovic Sabina, Lleó Alberto, Alcolea Daniel, Fortea Juan, Willem Michael, Lammich Sven, Molinuevo José L, Sánchez-Valle Raquel, Antonell Anna, Ramirez Alfredo, Heneka Michael T, Sleegers Kristel, van der Zee Julie, Martin Jean-Jacques, Engelborghs Sebastiaan, Demirtas-Tatlidede Asli, Zetterberg Henrik, Van Broeckhoven Christine, Gurvit Hakan, Wyss-Coray Tony, Hardy John, Colonna Marco, Haass Christian

Abstract excerpt

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...

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Source

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Identifiers

PMID: 24990881
DOI: 10.1126/scitranslmed.3009093

Genes

TREM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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