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

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 mu...

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Detalles Bibliográficos
Autores principales: Kober, Daniel L, Alexander-Brett, Jennifer M, Karch, Celeste M, Cruchaga, Carlos, Colonna, Marco, Holtzman, Michael J, Brett, Thomas J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5173322/
https://www.ncbi.nlm.nih.gov/pubmed/27995897
http://dx.doi.org/10.7554/eLife.20391