Associated Papers
Protective PLCG2 variants associate with a delayed onset of Alzheimer's disease among heterozygous APOE ε4 carriers.
Jeskanen H et al.
Alzheimer's Research & Therapy, 2026
PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications.
Jiang P et al.
Journal of Translational Medicine, 2026
Genetics of PLCG2 expression and splicing relative to Alzheimer's disease risk.
Turner AK et al.
Molecular Neurodegeneration Advances, 2026
Molecular hallmarks of excitatory and inhibitory neuronal resilience to Alzheimer's disease.
Castanho I et al.
Molecular Neurodegeneration, 2025
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
Alzheimer's disease-associated PLCG2 variants alter microglial state and function in human induced pluripotent stem cell-derived microglia-like cells.
Bedford LM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Genetics of PLCG2 expression and splicing relative to Alzheimer's disease risk.
Turner AK et al.
Research Square, 2025
ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation.
Shapira G et al.
Molecular Psychiatry, 2025
Phosphoinositide-specific phospholipase C enzymes: Recent advances in a long journey.
Macrae C et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025
Protective genetic variants against Alzheimer's disease.
Marino C et al.
The Lancet. Neurology, 2025
PLCG2 modulates TREM2 expression and signaling in response to Alzheimer's disease pathology.
Messenger EJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
The protective PLCγ2-P522R variant mitigates Alzheimer's disease-associated pathologies by enhancing beneficial microglial functions.
Takalo M et al.
Journal of Neuroinflammation, 2025
The impact of rare genetic variants on Alzheimer disease.
De Deyn L et al.
Nature Reviews. Neurology, 2025
Characterisation of molecular mechanisms for PLCγ2 disease-linked variants.
Bunney TD et al.
Advances in Biological Regulation, 2024
The crystal and cryo-EM structures of PLCγ2 reveal dynamic interdomain recognitions in autoinhibition.
Shin YC et al.
Science Advances, 2024
Elevated expression of the retrotransposon LINE-1 drives Alzheimer's disease-associated microglial dysfunction.
Roy N et al.
Acta Neuropathologica, 2024
Alzheimer's disease-associated protective variant Plcg2-P522R modulates peripheral macrophage function in a sex-dimorphic manner.
Staley HA et al.
Journal of Neuroinflammation, 2024
Cognitively healthy centenarians are genetically protected against Alzheimer's disease.
Tesi N et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function - Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation.
Bull D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K et al.
The Journal of Allergy and Clinical Immunology, 2024
Towards a Unitary Hypothesis of Alzheimer's Disease Pathogenesis.
Area-Gomez E et al.
Journal of Alzheimer's Disease : Jad, 2024
Multi-omics analyses reveal novel effects of PLCγ2 deficiency in the mouse brain.
Hopp SC et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic variants of phospholipase C-γ2 alter the phenotype and function of microglia and confer differential risk for Alzheimer's disease.
Tsai AP et al.
Immunity, 2023
Molecular Insights into Cell Type-specific Roles in Alzheimer's Disease: Human Induced Pluripotent Stem Cell-based Disease Modelling.
Qu W et al.
Neuroscience, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers.
Brase L et al.
Nature Communications, 2023
Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system.
Diks AM et al.
Molecular Neurodegeneration, 2023
Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.
Chandy T
Dementia & Neuropsychologia, 2023
Microglial efferocytosis: Diving into the Alzheimer's disease gene pool.
Romero-Molina C et al.
Neuron, 2022
The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer's disease mouse model.
Claes C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
Microglia: Friend and foe in tauopathy.
Odfalk KF et al.
Progress in Neurobiology, 2022
Heterozygous expression of the Alzheimer's disease-protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses.
Solomon S et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
Welzel T et al.
Journal of Clinical Medicine, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Genomics and Functional Genomics of Alzheimer's Disease.
Kamboh MI
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
PLCγ2 impacts microglia-related effectors revealing variants and pathways important in Alzheimer's disease.
Li K et al.
Frontiers in Cell and Developmental Biology, 2022
Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.
Li Y et al.
Cellular and Molecular Life Sciences : Cmls, 2021
PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages.
Obst J et al.
Scientific Reports, 2021
PIP2 depletion and altered endocytosis caused by expression of Alzheimer's disease-protective variant PLCγ2 R522.
Maguire E et al.
The Embo Journal, 2021
The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration.
Jackson JT et al.
The Journal of Biological Chemistry, 2021