June 1, 2018Open Access

The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer’s disease

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Resumen

These data suggest that the AD-associated TREM2 R47H variant increases risk for AD by conferring a loss of TREM2 function and enhancing neuritic dystrophy around plaques.

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Cite This Study

Cheng-Hathaway et al. (Fri,) studied this question.

synapsesocial.com/papers/69d9681f5e5bcb4e3b836348 https://doi.org/https://doi.org/10.1186/s13024-018-0262-8

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Disease Progression-Dependent Effects of TREM2 Deficiency in a Mouse Model of Alzheimer's Disease2016 · 481 citations
2TREM2 deficiency impairs chemotaxis and microglial responses to neuronal injury2017 · 363 citations
3Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype2002 · 700 citations
4TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy2016 · 825 citations
5Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms2016 · 279 citations

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