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References from Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1016/j.csbj.2025.01.024 · Admitted local publication
10.1016/j.biopha.2023.115218
10.1016/j.biopha.2023.115218 · External reference
TREM2 in the pathogenesis of AD: a lipid metabolism regulator and potential metabolic therapeutic target
2022 · External reference
10.1016/j.cell.2020.05.003
10.1016/j.cell.2020.05.003 · External reference
10.1007/s12035-021-02477-9
10.1007/s12035-021-02477-9 · External reference
Variant of TREM2 Associated with the Risk of Alzheimer’s Disease
10.1056/nejmoa1211103 · 2012 · External reference
TREM2 variants in Alzheimer’s disease
10.1056/nejmoa1211851 · 2012 · External reference
10.1016/j.neurobiolaging.2012.12.018
10.1016/j.neurobiolaging.2012.12.018 · External reference
Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer’s disease data set
10.1016/j.neurobiolaging.2016.03.009 · 2016 · External reference
The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk
10.1212/wnl.0000000000000855 · 2014 · External reference
AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation
10.1126/scitranslmed.abe3947 · 2021 · External reference
The most prevalent rare coding variants of TREM2 conferring risk of Alzheimer’s disease: A systematic review and meta‑analysis
2021 · External reference
Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants
10.1038/s41598-020-60561-x · 2020 · External reference
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature
10.1016/j.neurobiolaging.2017.01.015 · 2017 · External reference
10.1093/brain/awae014
10.1093/brain/awae014 · External reference
TREM2, Frontotemporal Dementia–Like Disease, Nasu-Hakola Disease, and Alzheimer dementia: a chicken and egg problem?
10.1001/jamaneurol.2013.453 · 2013 · External reference
10.1016/s1474-4422(18)30232-1
10.1016/s1474-4422(18)30232-1 · External reference
10.1074/jbc.ra118.002352
10.1074/jbc.ra118.002352 · External reference
10.1371/journal.pcbi.1008543
10.1371/journal.pcbi.1008543 · External reference
10.1093/nar/gkad472
10.1093/nar/gkad472 · External reference
DynaMut2: Assessing changes in stability and flexibility upon single and multiple point missense mutations
10.1002/pro.3942 · 2020 · External reference
MAESTRO - multi agent stability prediction upon point mutations
10.1186/s12859-015-0548-6 · 2015 · External reference
DeepDDG: Predicting the stability change of protein point mutations using neural networks
10.1021/acs.jcim.8b00697 · 2019 · External reference
INPS-MD: a web server to predict stability of protein variants from sequence and structure
10.1093/bioinformatics/btw192 · 2016 · External reference
Predicting functional effect of human missense mutations using PolyPhen-2
2013 · External reference
Accurate proteome-wide missense variant effect prediction with AlphaMissense
10.1126/science.adg7492 · 2023 · External reference
10.1093/nar/gkg509
10.1093/nar/gkg509 · External reference
10.1093/nar/gky1016
10.1093/nar/gky1016 · External reference
Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms
10.7554/elife.20391 · 2016 · External reference
10.1016/j.bbrep.2025.102049
10.1016/j.bbrep.2025.102049 · External reference
10.1091/mbc.e17-06-0423
10.1091/mbc.e17-06-0423 · External reference
10.1080/13554794.2017.1294182
10.1080/13554794.2017.1294182 · External reference
Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression
10.1186/s40478-016-0367-7 · 2016 · External reference
Biophysical mapping of TREM2-ligand interactions reveals shared surfaces for engagement of multiple Alzheimer’s disease ligands
10.1186/s13024-024-00795-9 · 2025 · External reference
Structural and functional analysis of TREM2 interactions with amyloid beta reveal molecular mechanisms that mediate phagocytosis of oligomeric amyloid beta
2024 · External reference
Alzheimer’s disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation
10.1016/j.jalz.2016.07.004 · 2016 · External reference
Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia
2020 · External reference
Investigating the role of rare heterozygous TREM2 variants in Alzheimer’s disease and frontotemporal dementia
10.1016/j.neurobiolaging.2013.09.009 · 2013 · External reference
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes
10.1016/j.neurobiolaging.2014.06.018 · 2014 · External reference
10.1038/ng.3916
10.1038/ng.3916 · External reference
TREM2 is associated with increased risk for Alzheimer’s disease in African Americans
2015 · External reference
Heterozygous TREM2 mutations in frontotemporal dementia
10.1016/j.neurobiolaging.2013.09.017 · 2013 · External reference
10.1074/jbc.m116.759159
10.1074/jbc.m116.759159 · External reference
TREM2 R47H variant as a risk factor for Early-Onset Alzheimer’s Disease
10.3233/jad-122311 · 2013 · External reference
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia–like syndrome without bone involvement
10.1001/jamaneurol.2013.579 · 2013 · External reference
10.1016/j.neurobiolaging.2013.06.005
10.1016/j.neurobiolaging.2013.06.005 · External reference