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Article

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.

eLife - 20 Dec 2016

Kober Daniel L, Alexander-Brett Jennifer M, Karch Celeste M, Cruchaga Carlos, Colonna Marco, Holtzman Michael J, Brett Thomas J

Abstract excerpt

Genetic variations in the myeloid immune receptor TREM2 are linked to several neurodegenerative diseases. To determine how TREM2 variants contribute to these diseases, we performed structural and functional studies of wild-type and variant proteins. Our 3.1 Å TREM2 crystal structure revealed that mutations found in Nasu-Hakola disease are buried whereas Alzheimer's disease risk variants are found on the surface,...

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Share to Crystallography, X-Ray
Share to Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27995897
DOI: 10.7554/eLife.20391
PMCID: PMC5173322

Genes

TREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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