Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.T66M
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TREM2

NM_018965.4:p.T66M

Associated Papers

Decoding TREM2 Signaling Pathways: Linking Macrophage Glycolysis to Inflammatory Diseases in the CNS.

Che Y et al.

Neurology(r) Neuroimmunology & Neuroinflammation, 2026

TREM2 activation by first-in-class direct small molecule agonists: DEL screening, optimization, biophysical validation, and functional characterization.

Nada H et al.

European Journal of Medicinal Chemistry, 2026

TREM2-apoE3 interactions and Alzheimer's disease: Molecular and structural insights and effects of TREM2 R47H and apoE4 variants.

Greer RA et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2

Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.

Podleśny-Drabiniok A et al.

Cell Reports, 2025

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.

Yang H et al.

International Journal of Molecular Sciences, 2025

Glial Cells in Alzheimer's Disease: Pathogenic Mechanisms and Therapeutic Frontiers.

Sil M et al.

Journal of Molecular Neuroscience : Mn, 2025

TREM2 Activation by First-in-Class Direct Small Molecule Agonists: DEL Screening, Optimization, Biophysical Validation, and Functional Characterization.

Nada H et al.

Biorxiv : the Preprint Server for Biology, 2025

Amelioration of signaling deficits underlying metabolic shortfall in TREM2R47H human iPSC-derived microglia.

Vasilopoulou F et al.

The Febs Journal, 2025

TREM2 risk variants and associated endophenotypes in alzheimer's disease.

Dijkstra JIR et al.

Alzheimer's Research & Therapy, 2025

The impact of rare genetic variants on Alzheimer disease.

De Deyn L et al.

Nature Reviews. Neurology, 2025

Induced pluripotent stem cell-derived macrophages as a platform for modelling human disease.

Tiwari SK et al.

Nature Reviews. Immunology, 2025

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

Microglia and TREM2.

Pocock J et al.

Neuropharmacology, 2024

AlzDiscovery: A computational tool to identify Alzheimer's disease-causing missense mutations using protein structure information.

Pan Q et al.

Protein Science : a Publication of the Protein Society, 2024

Genetic aspects of ataxias in a cohort of Turkish patients.

Gogus B et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

TREM2 on microglia cell surface binds to and forms functional binary complexes with heparan sulfate modified with 6-O-sulfation and iduronic acid.

McMillan IO et al.

The Journal of Biological Chemistry, 2024

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

Kiianitsa K et al.

Brain : a Journal of Neurology, 2024

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Gilani N et al.

Molecular Genetics & Genomic Medicine, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

iPSC-derived microglia carrying the TREM2 R47H/+ mutation are proinflammatory and promote synapse loss.

Penney J et al.

Glia, 2024

Trem2 expression in microglia is required to maintain normal neuronal bioenergetics during development.

Tagliatti E et al.

Immunity, 2024

Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer's disease.

Wang L et al.

Molecular Neurodegeneration, 2024

Decoding sTREM2: its impact on Alzheimer's disease - a comprehensive review of mechanisms and implications.

Lin C et al.

Frontiers in Aging Neuroscience, 2024

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.

Barczak A et al.

Folia Neuropathologica, 2024

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.

Ogonowski N et al.

Journal of Medical Genetics, 2023

Using Stems to Bear Fruit: Deciphering the Role of Alzheimer's Disease Risk Loci in Human-Induced Pluripotent Stem Cell-Derived Microglia.

Wickstead ES

Biomedicines, 2023

A MICROGLIAL ACTIVITY STATE BIOMARKER PANEL DIFFERENTIATES FTD-GRANULIN AND ALZHEIMER'S DISEASE PATIENTS FROM CONTROLS.

Pesämaa I et al.

Biorxiv : the Preprint Server for Biology, 2023

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.

Funes S et al.

Biorxiv : the Preprint Server for Biology, 2023

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.

Filipello F et al.

Acta Neuropathologica, 2023

Untangling the Role of TREM2 in Conjugation with Microglia in Neuronal Dysfunction: A Hypothesis on a Novel Pathway in the Pathophysiology of Alzheimer's Disease.

Basha SC et al.

Journal of Alzheimer's Disease : Jad, 2023

The role of TREM2 N-glycans in trafficking to the cell surface and signal transduction of TREM2.

Shirotani K et al.

Journal of Biochemistry, 2022

The Hidden Role of Non-Canonical Amyloid β Isoforms in Alzheimer's Disease.

Busch L et al.

Cells, 2022

The role of triggering receptor expressed on myeloid cells 2 in Parkinson's disease and other neurodegenerative disorders.

Schwarz H et al.

Behavioural Brain Research, 2022

Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.

Dash R et al.

Scientific Reports, 2022

TREM2 coding variants in Slovak Alzheimer's disease patients.

Durmanova V et al.

Journal of Integrative Neuroscience, 2022

Soluble TREM2: Innocent bystander or active player in neurological diseases?

Filipello F et al.

Neurobiology of Disease, 2022

An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.

Jin B et al.

Genome Research, 2022

Microglial TREM2 in amyotrophic lateral sclerosis.

Xie M et al.

Developmental Neurobiology, 2022

TREM2 Deficiency Disrupts Network Oscillations Leading to Epileptic Activity and Aggravates Amyloid-β-Related Hippocampal Pathophysiology in Mice.

Stoiljkovic M et al.

Journal of Alzheimer's Disease : Jad, 2022

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Differential interaction with TREM2 modulates microglial uptake of modified Aβ species.

Joshi P et al.

Glia, 2021

Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.

Li Y et al.

Cellular and Molecular Life Sciences : Cmls, 2021

TREM2 modulates differential deposition of modified and non-modified Aβ species in extracellular plaques and intraneuronal deposits.

Joshi P et al.

Acta Neuropathologica Communications, 2021

Role of TREM2 in Alzheimer's Disease: A Long Road Ahead.

Kulkarni B et al.

Molecular Neurobiology, 2021

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.

Samanci B et al.

European Journal of Neurology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."