Associated Papers
TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.
Yang H et al.
International Journal of Molecular Sciences, 2025
Amelioration of signaling deficits underlying metabolic shortfall in TREM2R47H human iPSC-derived microglia.
Vasilopoulou F et al.
The Febs Journal, 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
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
Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.
Swain PS et al.
Journal of Molecular Modeling, 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
Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.
Dash R et al.
Scientific Reports, 2022
Microglial signalling pathway deficits associated with the patient derived R47H TREM2 variants linked to AD indicate inability to activate inflammasome.
Cosker K et al.
Scientific Reports, 2021
When glia meet induced pluripotent stem cells (iPSCs).
Li L et al.
Molecular and Cellular Neurosciences, 2020
Microglial Phagocytosis: A Disease-Associated Process Emerging from Alzheimer's Disease Genetics.
Podleśny-Drabiniok A et al.
Trends in Neurosciences, 2020
TREM2 Alzheimer's variant R47H causes similar transcriptional dysregulation to knockout, yet only subtle functional phenotypes in human iPSC-derived macrophages.
Hall-Roberts H et al.
Alzheimer's Research & Therapy, 2020
IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network.
Martins S et al.
International Journal of Molecular Sciences, 2020
Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants.
Dash R et al.
Scientific Reports, 2020
A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia.
Piers TM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Generating microglia from human pluripotent stem cells: novel in vitro models for the study of neurodegeneration.
Speicher AM et al.
Molecular Neurodegeneration, 2019
Human stem cell-derived monocytes and microglia-like cells reveal impaired amyloid plaque clearance upon heterozygous or homozygous loss of TREM2.
Claes C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.
Errichiello E et al.
Frontiers in Immunology, 2019
Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis.
Garcia-Reitboeck P et al.
Cell Reports, 2018
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.
Brownjohn PW et al.
Stem Cell Reports, 2018
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.
Dardiotis E et al.
Neurobiology of Aging, 2017