ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
Open accessAbstract
BACKGROUND: Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer's disease (AD). METHODS: We tested the association of these variants with five neurodegenerative diseases in Caucasian case-control cohorts: 2742 AD, 231 progressive supranuclear palsy (PSP), 838 Parkinson's disease (PD), 306 dementia with Lewy bodies (DLB) and 150 multiple system atrophy (MSA) vs. 3351 controls; and in an African-American AD case-control cohort (181 AD, 331 controls). 1479 AD and 1491 controls were non-overlapping with a prior report. RESULTS: Using Fisher's exact test, there was significant association of both ABI3_rs616338-T (OR = 1.41, p = 0.044) and PLCG2_rs72824905-G (OR = 0.56, p = 0.008) with AD. These OR estimates were maintained in the non-overlapping replication AD-control analysis, albeit at reduced significance (ABI3_rs616338-T OR = 1.44, p = 0.12; PLCG2_rs72824905-G OR = 0.66, p = 0.19). None of the other cohorts showed significant associations that were concordant with those for AD, although the DLB cohort had suggestive findings (Fisher's test: ABI3_rs616338-T OR = 1.79, p = 0.097; PLCG2_rs72824905-G OR = 0.32, p = 0.124). PLCG2_rs72824905-G showed suggestive association with pathologically-confirmed MSA (OR = 2.39, p = 0.050) and PSP (OR = 1.97, p = 0.061), although in the opposite direction of that for AD. We assessed RNA sequencing data from 238 temporal cortex (TCX) and 224 cerebellum (CER) samples from AD, PSP and control patients and identified co-expression networks, enriched in microglial genes and immune response GO terms, and which harbor PLCG2 and/or ABI3. These networks had higher expression in AD, but not in PSP TCX, compared to controls. This expression association did not survive adjustment for brain cell type population changes. CONCLUSIONS: We validated the associations previously reported with ABI3_rs616338-T and PLCG2_rs72824905-G in a Caucasian AD case-control cohort, and observed a similar direction of effect in DLB. Conversely, PLCG2_rs72824905-G showed suggestive associations with PSP and MSA in the opposite direction. We identified microglial gene-enriched co-expression networks with significantly higher levels in AD TCX, but not in PSP, a primary tauopathy. This co-expression network association appears to be driven by microglial cell population changes in a brain region affected by AD pathology. Although these findings require replication in larger cohorts, they suggest distinct effects of the microglial genes, ABI3 and PLCG2 in neurodegenerative diseases that harbor significant vs. low/no amyloid ß pathology.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
ABI3 is highly expressed in microglia.
“Similar to newly identified other AD risk variants (e.g., TREM2, SPI1, and MS4A6A), ABI3 is highly expressed in microglia (8, 9, 11).”
From Deletion of <i>Abi3</i> gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The Background identifies ABI3-expressing microglial clusters in AD brains, and the Discussion describes ABI3 as part of a co-expressed microglial gene network. The Results report higher expression of that network in AD temporal cortex, but do not establish that ABI3 itself is highly expressed in microglia generally. (LLM, conf=0.82)
Experimental — accuracy not yet measuredThe association of the ABI3 variant with LOAD was replicated by independent groups.
“Subsequently, this association was replicated by independent groups (9, 10).”
From Deletion of <i>Abi3</i> gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The Results (‘Association of rs616338 and rs72824905 with AD’) say the authors validated the previously reported ABI3 association and found the same direction of effect in a non-overlapping AD replication cohort. That cohort’s result was not statistically significant (OR = 1.44, p = 0.116), and this paper alone does not establish replication by multiple independent groups. (LLM, conf=0.85)
Experimental — accuracy not yet measuredABI3 has a microglia-specific gene expression pattern.
“Consistent with its microglia specific gene expression pattern (8, 9, 11), we found that deletion of Abi3 locus altered the expression of genes regulating microglial phagocytosis and immune response.”
From Deletion of <i>Abi3</i> gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The Results (Brain expression of ABI3 and PLCG2; page unavailable) place ABI3 in co-expression networks highly enriched for microglial genes. The Discussion likewise describes ABI3 as part of a network of co-expressed microglial genes. These passages support an association with microglial expression, but do not establish that ABI3 expression is specific to microglia. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThe P522R variant in PLCG2 is protective not only in Alzheimer's disease but also in other neurodegenerative diseases such as frontotemporal dementia and dementia with Lewy bodies.
“The missense variant P522R in PLCG2 (rs72824905-G, P = 5.38 × 10−10, OR = 0.68) was shown to be protective, not only in the context of AD4,5, but also in other neurodegenerative diseases such as frontotemporal dementia and dementia with Lewy bodies6.”
From PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages (2021) · cites this paper as [5]
The Results report a protective association of PLCG2 P522R with Alzheimer’s disease (OR = 0.56, p = 0.008). For dementia with Lewy bodies, the association was only suggestive, not significant (OR = 0.32, p = 0.124). The paper’s listed disease cohorts do not include frontotemporal dementia, so it does not support that part of the claim. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThe P522R variant in PLCG2 confers protection for Alzheimer's disease and results in a subtle increase in enzymatic activity.
“The P522R variant in PLCG2 has been shown to confer protection for AD and to result in a subtle increase in enzymatic activity.”
From PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages (2021) · cites this paper as [5]
The Conclusions identify PLCG2_rs72824905-G (p.Pro522Arg) as a protective factor for Alzheimer's disease. The Discussion says this variant is expected to increase PLCγ2 signaling activity, but does not report a measured, subtle increase in its enzymatic activity. Page numbers are not available in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measured
The PLCG2-P522R variant decreases the risk of Alzheimer's disease and increases longevity.
“Genetic studies have identified a protective P522R variant in the PLCG2 gene (PLCG2-P522R; rs72824905 C > G), which decreases the risk of Alzheimer’s disease (AD) and increases longevity [1–4].”
From Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers (2026) · cites this paper as [2]
The Results (Association of rs616338 and rs72824905 with AD; page unavailable) report an association between PLCG2-P522R and lower AD risk in the complete Caucasian cohort, though the non-overlapping replication cohort's result was not statistically significant. The paper does not report that the variant increases longevity (searched: longevity, lifespan, survival). (LLM, conf=0.88)
Experimental — accuracy not yet measuredHuman studies confirmed the relevance of the R522 variant with other dementias.
“Human studies confirmed the relevance of the R522 variant with other dementias and associated it with increased longevity in centenarian cohorts (Bellenguez et al. 2022; Conway et al. 2018; van der Lee et al. 2019).”
From Alzheimer's Protection by <scp>PLCγ2</scp> Compacts Plaques, Redistributes Microglia, and Protects Synapses in <scp> <i>App</i> <sup> <i>NL</i> </sup> </scp> <sup> <i>‐G‐F</i> </sup> Mice (2026) · cites this paper as Conway et al. 2018
The Results section reports a suggestive association between the PLCG2 R522 variant and dementia with Lewy bodies (p = 0.124), but says no other disease cohort showed a significant association concordant with Alzheimer’s disease. The Discussion likewise describes a shared genetic component as a possibility, not a confirmed finding. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThe initial genetic results for P522R and decreased AD risk were replicated by various independent cohorts.
“The initial genetic results were replicated by various independent cohorts (160, 161, 162).”
From The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration (2021) · cites this paper as [160]
The Results section reports that PLCG2 rs72824905-G (P522R) was associated with decreased AD risk in the full Caucasian cohort. Its non-overlapping replication cohort showed the same direction of effect, but that result was not statistically significant (Fisher’s OR = 0.66, p = 0.192). This paper therefore supports a directionally consistent result in one independent cohort, not a statistically significant replication across various cohorts. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThe S209F variant of ABI3 (rs616338:p.Ser209Phe) increases risk of Alzheimer's disease (OR = 1.43, p = 4.5 × 10−10, MAF = 0.008).
“The S209F variant of Abelson Interactor Protein 3 (ABI3) increases risk for Alzheimer’s disease (AD)”
From Deletion of Abi3/Gngt2 influences age-progressive amyloid β and tau pathologies in distinctive ways (2022) · cites this paper as [7]
The Results section ('Association of rs616338 and rs72824905 with AD'; page not provided) supports the stated direction of AD risk for ABI3 p.Ser209Phe. It reports OR = 1.41 and p = 0.044 for the complete Caucasian cohort, however, not the claim’s OR = 1.43, p = 4.5 × 10−10, or MAF = 0.008. (LLM, conf=0.88)
Experimental — accuracy not yet measuredABI3 is an AD risk gene.
“Recent reports have confirmed ABI3 as an AD risk gene [6–8].”
From Deletion of Abi3/Gngt2 influences age-progressive amyloid β and tau pathologies in distinctive ways (2022) · cites this paper as [7]
The Results (Association of rs616338 and rs72824905 with AD) report an association between an ABI3 variant and AD in the combined Caucasian cohort. But the independent replication cohort and adjusted analysis did not reach statistical significance. The Conclusions say the findings strengthen the evidence for ABI3 as an AD risk factor, rather than definitively confirm it. (LLM, conf=0.82)
Experimental — accuracy not yet measuredRNA sequencing of human postmortem brain tissue reinforces the importance of microglial and inflammatory mechanisms in AD pathogenesis, among other pathways.
“Results from RNA sequencing (RNA-seq) of human postmortem brain tissue further reinforce the importance of microglial and inflammatory mechanisms in AD pathogenesis, among other pathways (Allen et al., 2018; Conway et al., 2018; McKenzie et al., 2017; Patrick et al., 2017; Wang et al., 2016, 2019; Zhang et al., 2013).”
From Meta-Analysis of the Alzheimer’s Disease Human Brain Transcriptome and Functional Dissection in Mouse Models (2020) · cites this paper as Conway et al., 2018
Many human brain gene expression changes associated with AD, including neuronal- and microglial-enriched modules, may represent common transcriptional programs activated by the aging process itself.
“This result suggests that many human brain gene expression changes associated with AD, including neuronal- and microglial-enriched modules reported in other studies (Conway et al., 2018; Mostafavi et al., 2018; Zhang et al., 2013), may represent common transcriptional programs activated by the aging process itself.”
From Meta-Analysis of the Alzheimer’s Disease Human Brain Transcriptome and Functional Dissection in Mouse Models (2020) · cites this paper as Conway et al., 2018
Human genetics studies of Alzheimer's disease have identified the ABI3 gene or locus as a risk gene or risk variant for late-onset Alzheimer's disease.
“Human genetics studies of Alzheimer’s disease (AD) have identified the ABI3 gene as a candidate risk gene for AD.”
From The effect of Abi3 locus deletion on the progression of Alzheimer’s disease-related pathologies (2023) · cites this paper as [15]
A rare coding missense variant in the ABI3 gene is associated with an increased risk of AD.
“For example, a rare coding missense variant in the ABI3 gene is associated with an increased risk of AD (8, 9).”
From Deletion of <i>Abi3</i> gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
ABI3 and its downstream pathways may be promising therapeutic targets.
“Given our functional data shown in this study and its significant genetic association with AD (8–10), ABI3 and its downstream pathways may be promising therapeutic targets.”
From Deletion of <i>Abi3</i> gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The ABI3 S209F variant is a recognized genetic risk factor for Alzheimer's disease.
“Although the ABI3 S209F variant is a recognized genetic risk for Alzheimer's disease (AD), its pathogenic mechanism remains elusive.”
From Aberrant phase separation from a rare <i>ABI3</i> mutation drives microglial dysfunction and Alzheimer's risk (2026) · cites this paper as [16]
Human genetics studies of AD identified a coding variant of ABI3, p.Ser209Phe (rs616338), associated with late-onset AD.
“Human genetics studies of AD identified a coding variant of ABI3, p.Ser209Phe (rs616338), associated with late-onset AD158–161 (Table 2y).”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [159]
The PLCG2 M28L variant confers a modest increased risk of AD (OR ≈ 1.16).
“other rare PLCG2 variants, such as M28L (rs61749044) that confers a modest increased risk of AD (OR ≈ 1.16) [1, 4, 7–13]”
From PLCγ2 deficiency compromises systemic immune tolerance and erodes myelin homeostasis while enhancing oxidative metabolism in the mouse brain (2026) · cites this paper as [7]
The Results section (page not available) reports AD associations for PLCG2 rs72824905-G, not M28L (rs61749044). Searches for M28L, rs61749044, and an AD odds ratio of approximately 1.16 found no passage addressing the claimed variant, so this copy cannot verify its reported risk. (LLM, conf=0.76)
Experimental — accuracy not yet measuredHuman studies associated the R522 variant with increased longevity in centenarian cohorts.
“Human studies confirmed the relevance of the R522 variant with other dementias and associated it with increased longevity in centenarian cohorts (Bellenguez et al. 2022; Conway et al. 2018; van der Lee et al. 2019).”
From Alzheimer's Protection by <scp>PLCγ2</scp> Compacts Plaques, Redistributes Microglia, and Protects Synapses in <scp> <i>App</i> <sup> <i>NL</i> </sup> </scp> <sup> <i>‐G‐F</i> </sup> Mice (2026) · cites this paper as Conway et al. 2018
The Methods > Subjects section describes Alzheimer’s disease and other neurodegenerative-disease cohorts, not centenarian cohorts. The Discussion identifies PLCG2 p.Pro522Arg, but the passages retrieved for longevity and centenarians do not report an association with increased longevity. No page numbers are available in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915 · see citing works
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252 · see citing works
Trapnell, C., Roberts, A., Goff, L. A., Pertea, G. M., Kim, D., Kelley, D. R., Pimentel, H., Salzberg, S. L., Rinn, J. L., & Pachter, L. S. (2012) · Nature Protocols · doi:10.1038/nprot.2012.016 · Cited by 11,930 · see citing works
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium
McKeith, I. G., Boeve, B. F., Dickson, D. W., Halliday, G., Taylor, J.-P., Weintraub, D., Aarsland, D., Galvin, J., Attems, J., Ballard, C. G., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004058 · Cited by 4,476 · see citing works
Self-citationMechanisms underlying inflammation in neurodegeneration
Glass, C. K., Saijo, K., Winner, B., Marchetto, M. C., & Gage, F. H. (2010) · Cell · doi:10.1016/j.cell.2010.02.016 · Cited by 3,580 · see citing works
The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote
Liao, Y., Smyth, G. K., & Shi, W. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt214 · Cited by 3,064 · see citing works
<i>TREM2</i> Variants in Alzheimer's Disease
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211851 · Cited by 3,020 · see citing works
Self-citationDiagnostic Criteria for Parkinson Disease
Gelb, D. J., Oliver, E., & Gilman, S. (1999) · Archives of Neurology · doi:10.1001/archneur.56.1.33 · Cited by 2,822 · see citing works
RSeQC: quality control of RNA-seq experiments
Wang, L., Wang, S., & Li, W. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts356 · Cited by 2,813 · see citing works
Variant of <i>TREM2</i> Associated with the Risk of Alzheimer's Disease
Jonsson, T., Stefansson, H., Steinberg, S., Jonsdottir, I., Jonsson, P. V., Snaedal, J., Bjornsson, S., Huttenlocher, J., Levey, A. I., Lah, J. J., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211103 · Cited by 2,558 · see citing works
Zhang, Y., Sloan, S. A., Clarke, L. E., Caneda, C., Plaza, C. A., Blumenthal, P. D., Vogel, H., Steinberg, G. K., Edwards, M. S. B., Li, G., et al. (2016) · Neuron · doi:10.1016/j.neuron.2015.11.013 · Cited by 2,295 · see citing works
Microglia in Alzheimer’s disease
Hansen, D. V., Hanson, J. E., & Sheng, M. (2018) · Journal of Cell Biology · doi:10.1083/jcb.201709069 · Cited by 1,935 · cited 3× · see citing works
“In the temporal cortex, ABI3 also belonged in the “immune/microglial” modules, which harbored many other AD candidate risk genes [10, 31] (Additional file 1: Table S4, Additional file 2: Figure S1).”
BackgroundMicroglial physiology: unique stimuli, specialized responses
Ransohoff, R. M., & Perry, V. H. (2009) · Annual Review of Immunology · doi:10.1146/annurev.immunol.021908.132528 · Cited by 1,858 · see citing works
Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
Zhang, B., Gaiteri, C., Bodea, L.-G., Wang, Z., McElwee, J., Podtelezhnikov, A. A., Zhang, C., Xie, T., Tran, L., Dobrin, R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.03.030 · Cited by 1,657 · see citing works
Depletion of microglia and inhibition of exosome synthesis halt tau propagation
Asai, H., Ikezu, S., Tsunoda, S., Medalla, M., Luebke, J., Haydar, T., Wolozin, B., Butovsky, O., Kügler, S., & Ikezu, T. (2015) · Nature Neuroscience · doi:10.1038/nn.4132 · Cited by 1,591 · see citing works
ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3916 · Cited by 1,126 · see citing works
Self-citationInflammation in CNS neurodegenerative diseases
Stephenson, J., Nutma, E., van der Valk, P., & Amor, S. (2018) · Immunology · doi:10.1111/imm.12922 · Cited by 966 · see citing works
Hauw, J., Daniel, S. E., Dickson, D. W., Horoupian, D. S., Jellinger, K. A., Lantos, P. L., McKee, A. C., Tabaton, M., & Litvan, I. (1994) · Neurology · doi:10.1212/wnl.44.11.2015 · Cited by 854 · see citing works
Self-citationBarker, W., Luis, C. A., Kashuba, A., Luis, M., Harwood, D. G., Loewenstein, D., Waters, C., Jimison, P., Shepherd, E., Sevush, S., et al. (2002) · Alzheimer Disease & Associated Disorders · doi:10.1097/00002093-200210000-00001 · Cited by 706 · see citing works
Self-citationRemoving technical variability in RNA-seq data using conditional quantile normalization
Hansen, K. D., Irizarry, R. A., & WU, Z. (2012) · Biostatistics · doi:10.1093/biostatistics/kxr054 · Cited by 607 · see citing works
Walker, D. G., & Lue, L.-F. (2015) · Alzheimer's Research & Therapy · doi:10.1186/s13195-015-0139-9 · Cited by 562 · see citing works
Late onset Alzheimer’s disease genetics implicates microglial pathways in disease risk
Efthymiou, A. G., & Goate, A. M. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0184-x · Cited by 562 · see citing works
Allen, M., Carrasquillo, M. M., Funk, C., Heavner, B. D., Zou, F., Younkin, C. S., Burgess, J. D., Chai, H.-S., Crook, J., Eddy, J. A., et al. (2016) · Scientific Data · doi:10.1038/sdata.2016.89 · Cited by 439 · see citing works
Self-citationCold Urticaria, Immunodeficiency, and Autoimmunity Related to <i>PLCG2</i> Deletions
Ombrello, M. J., Remmers, E. F., Sun, G., Freeman, A. F., Datta, S., Torabi-Parizi, P., Subramanian, N., Bunney, T. D., Baxendale, R. W., Martins, M. S., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1102140 · Cited by 425 · see citing works
MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing
Kalari, K. R., Nair, A., Bhavsar, J., O’Brien, D. R., Davila, J. I., Bockol, M. A., Nie, J. J., Tang, X., Baheti, S., Doughty, J. B., et al. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-224 · Cited by 415 · see citing works
Lee, C. Y. D., Daggett, A., Gu, X., Jiang, L.-L., Langfelder, P., Li, X., Wang, N., Zhao, Y., Park, C. S., Cooper, Y., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.02.002 · Cited by 396 · see citing works
APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies
Tsuang, D., Leverenz, J. B., Lopez, O. L., Hamilton, R. L., Bennett, D. A., Schneider, J. A., Buchman, A. S., Larson, E. B., Crane, P. K., Kaye, J. A., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.600 · Cited by 378 · see citing works
Zhou, Q., Lee, G.-S., Brady, J., Datta, S., Katan, M., Sheikh, A., Martins, M. S., Bunney, T. D., Santich, B. H., Moir, S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.006 · Cited by 374 · see citing works
Elucidating the Role of TREM2 in Alzheimer’s Disease
Ulrich, J. D., Ulland, T. K., Colonna, M., & Holtzman, D. M. (2017) · Neuron · doi:10.1016/j.neuron.2017.02.042 · Cited by 325 · see citing works
Microglial genes regulating neuroinflammation in the progression of Alzheimer's disease
Villegas-Llerena, C., Phillips, A., Garcia-Reitboeck, P., Hardy, J., & Pocock, J. M. (2016) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2015.10.004 · Cited by 270 · see citing works
Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants
Zou, F., Chai, H. S., Younkin, C. S., Allen, M., Crook, J. E., Pankratz, V. S., Carrasquillo, M. M., Rowley, C. N., Nair, A., Middha, S., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002707 · Cited by 216 · see citing works
Self-citationMultiple System Atrophy: A Sporadic Synucleinopathy
Dickson, D. W., Lin, W.-L., Liu, W.-K., & Yen, S.-H. C. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00553.x · Cited by 210 · see citing works
Self-citationIshizawa, K., & Dickson, D. W. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.6.647 · Cited by 209 · see citing works
Self-citationYu, P., Constien, R., Dear, N., Katan, M., Hanke, P., Bunney, T. D., Kunder, S., Quintanilla-Martinez, L., Huffstadt, U., Schröder, A., et al. (2005) · Immunity · doi:10.1016/j.immuni.2005.01.018 · Cited by 177 · see citing works
Novel late-onset Alzheimer disease loci variants associate with brain gene expression
Allen, M., Zou, F., Chai, H. S., Younkin, C. S., Crook, J. E., Pankratz, V. S., Carrasquillo, M. M., Rowley, C. N., Nair, A., Middha, S., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182605801 · Cited by 164 · see citing works
Self-citationTREM2 is associated with increased risk for Alzheimer’s disease in African Americans
Jin, S. C., Carrasquillo, M. M., Benitez, B. A., Skorupa, T., Carrell, D., Patel, D., Lincoln, S., Krishnan, S., Kachadoorian, M., Reitz, C., et al. (2015) · Molecular Neurodegeneration · doi:10.1186/s13024-015-0016-9 · Cited by 153 · see citing works
Self-citationConserved brain myelination networks are altered in Alzheimer’s and other neurodegenerative diseases
Allen, M., Wang, X., Burgess, J. D., Watzlawik, J., Serie, D. J., Younkin, C. S., Nguyen, T., Malphrus, K. G., Lincoln, S., Carrasquillo, M. M., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2017.09.012 · Cited by 143 · see citing works
Self-citationPhosphoregulation of the WAVE regulatory complex and signal integration
Mendoza, M. C. (2013) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2013.01.007 · Cited by 94 · see citing works
Neuroinflammation in Multiple System Atrophy: Response to and Cause of α-Synuclein Aggregation
Vieira, B. D. M., Radford, R. A., Chung, R. S., Guillemin, G. J., & Pountney, D. L. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00437 · Cited by 93 · see citing works
Cytokine expression and microglial activation in progressive supranuclear palsy
Fernández-Botrán, R., Ahmed, Z., Crespo, F. A., Gatenbee, C., Gonzalez, J., Dickson, D. W., & Litvan, I. (2011) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2011.06.007 · Cited by 93 · see citing works
Self-citationCommon Inflammatory Mechanisms in Lewy Body Disease and Alzheimer Disease
Mrak, R. E., & Griffin, W. S. T. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31812503e1 · Cited by 86 · see citing works
PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes
Milner, J. D. (2015) · Journal of Clinical Immunology · doi:10.1007/s10875-015-0177-x · Cited by 85 · see citing works
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
Meeus, B., Verstraeten, A., Crosiers, D., Engelborghs, S., den Broeck, M. V., Mattheijssens, M., Peeters, K., Corsmit, E., Elinck, E., Pickut, B. A., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.10.014 · Cited by 80 · see citing works
Late-onset Alzheimer disease risk variants mark brain regulatory loci
Allen, M., Kachadoorian, M., Carrasquillo, M. M., Karhade, A., Manly, L., Burgess, J. D., Wang, C., Serie, D., Wang, X., Siuda, J., et al. (2015) · Neurology Genetics · doi:10.1212/nxg.0000000000000012 · Cited by 73 · see citing works
Self-citationNext-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies
Geiger, J. T., Ding, J., Crain, B. J., Pletniková, O., Letson, C., Dawson, T. M., Rosenthal, L. S., Pantelyat, A. Y., Gibbs, J. R., Albert, M., et al. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.06.004 · Cited by 66 · see citing works
Characterization of Phospholipase Cγ Enzymes with Gain-of-Function Mutations
Everett, K. L., Bunney, T. D., Yoon, Y., Rodrigues-Lima, F., Harris, R., Driscoll, P. C., Abe, K., Fuchs, H., Hrabé de Angelis, M., Yu, P., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.019265 · Cited by 63 · see citing works
Carrasquillo, M. M., Allen, M., Burgess, J. D., Wang, X., Strickland, S. L., Aryal, S., Siuda, J., Kachadoorian, M. L., Medway, C., Younkin, C. S., et al. (2017) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.10.005 · Cited by 58 · cited 1× · see citing works
“TREM2, also associates with a protective effect in AD [46].”
BackgroundSelf-citationMicroglia express ABI3 in the brains of Alzheimer's disease and Nasu-Hakola disease
Satoh, J.-I., Kino, Y., Yanaizu, M., Tosaki, Y., Sakai, K., Ishida, T., & Saito, Y. (2017) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2017.01073 · Cited by 55 · see citing works
The NESH/Abi-3-based WAVE2 complex is functionally distinct from the Abi-1-based WAVE2 complex
Sekino, S., Kashiwagi, Y., Kanazawa, H., Takada, K., Baba, T., Sato, S., Inoue, H., Kojima, M., & Tani, K. (2015) · Cell Communication and Signaling · doi:10.1186/s12964-015-0119-5 · Cited by 43 · see citing works
When less is more: primary immunodeficiency with an autoinflammatory kick
Giannelou, A., Zhou, Q., & Kastner, D. L. (2014) · Current Opinion in Allergy & Clinical Immunology · doi:10.1097/aci.0000000000000117 · Cited by 34 · see citing works
Phospholipase Cγ in Toll-like receptor-mediated inflammation and innate immunity
Bae, Y.-S., Lee, H. Y., Jung, Y. S., Lee, M., & Suh, P.-G. (2017) · Advances in Biological Regulation · doi:10.1016/j.jbior.2016.09.006 · Cited by 34 · see citing works
Membrane Environment Exerts an Important Influence on Rac-Mediated Activation of Phospholipase Cγ2
Everett, K. L., Buehler, A., Bunney, T. D., Margineanu, A., Baxendale, R. W., Vatter, P., Retlich, M., Walliser, C., Manning, H. B., Neil, M. A. A., et al. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.01408-10 · Cited by 25 · see citing works
TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
Walton, R. L., Soto‐Ortolaza, A. I., Murray, M. E., Lorenzo‐Betancor, O., Ogaki, K., Heckman, M. G., Rayaprolu, S., Rademakers, R., Ertekin‐Taner, N., Uitti, R. J., et al. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000085 · Cited by 21 · see citing works
Self-citationRespondek, G., Levin, J., & Höglinger, G. (2018) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000581 · Cited by 15 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300 · see citing works
Wan, Y.-W., Al-Ouran, R., Mangleburg, C. G., Perumal, T. M., Lee, T. V., Allison, K., Swarup, V., Funk, C. C., Gaiteri, C., Allen, M., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107908 · Cited by 295 · see citing works
“This result suggests that many human brain gene expression changes associated with AD, including neuronal- and microglial-enriched modules reported in other studies (Conway et al., 2018; Mostafavi et al., 2018; Zhang et al., 2013), may represent common transcriptional programs activated by the aging process itself.”
ResultSelf-citationAlzheimer’s Risk Factors Age, APOE Genotype, and Sex Drive Distinct Molecular Pathways
Zhao, N., Ren, Y., Yamazaki, Y., Qiao, W., Li, F., Felton, L. M., Mahmoudiandehkordi, S., Kueider-Paisley, A., Sonoustoun, B., Arnold, M., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.02.034 · Cited by 225 · see citing works
Self-citationDESGESCO (Dementia Genetics Spanish Consortium), E. (. D. E. D. B., van der Lee, S. J., biobank), E. (. D. E. D., IFGC (International FTD-Genomics Consortium), I. (. I. P. D. G. C., IPDGC (The International Parkinson Disease Genomics Consortium), Dementia), R.-F. (. A. M. F. I. F.-T., (NBB), N. B. B., The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Conway, O. J., Jansen, I., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02026-8 · Cited by 120 · see citing works
Self-citationThe role of PLCγ2 in immunological disorders, cancer, and neurodegeneration
Jackson, J. T., Mulazzani, E., Nutt, S. L., & Masters, S. L. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100905 · Cited by 113 · see citing works
Hoogmartens, J., Cacace, R., & Broeckhoven, C. V. (2021) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12155 · Cited by 101 · see citing works
Genomics of Alzheimer’s disease implicates the innate and adaptive immune systems
Li, Y., Laws, S. M., Miles, L. A., Wiley, J. S., Huang, X., Masters, C. L., & Gu, B. J. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03986-5 · Cited by 93 · see citing works
Ramanan, V. K., Graff-Radford, J., Syrjanen, J., Shir, D., Algeciras-Schimnich, A., Lucas, J., Martens, Y. A., Carrasquillo, M. M., Day, G. S., Ertekin-Taner, N., et al. (2023) · Neurology · doi:10.1212/wnl.0000000000207675 · Cited by 89 · see citing works
Self-citationPhospholipase C families: Common themes and versatility in physiology and pathology
Katan, M., & Cockcroft, S. (2020) · Progress in Lipid Research · doi:10.1016/j.plipres.2020.101065 · Cited by 89 · see citing works
Microglia and Wnt Pathways: Prospects for Inflammation in Alzheimer’s Disease
Yang, Y., & Zhang, Z. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00110 · Cited by 76 · see citing works
Deciphering cellular transcriptional alterations in Alzheimer’s disease brains
Wang, X., Allen, M., Li, S., Quicksall, Z., Patel, T., Carnwath, T., Reddy, J. S., Carrasquillo, M. M., Lincoln, S., Nguyen, T., et al. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00392-6 · Cited by 68 · see citing works
Self-citationPeña‐Bautista, C., Casas-Fernández, E., Vento, M., Baquero, M., & Cháfer‐Pericás, C. (2020) · Clinica Chimica Acta · doi:10.1016/j.cca.2020.01.019 · Cited by 70 · see citing works
Alster, P., Madetko‐Alster, N., Koziorowski, D., & Friedman, A. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00893 · Cited by 66 · see citing works
Microglia: Friend and foe in tauopathy
Odfalk, K. F., Bieniek, K. F., & Hopp, S. C. (2022) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2022.102306 · Cited by 60 · see citing works
Magno, L., Bunney, T. D., Mead, E., Svensson, F., & Bictash, M. N. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00436-5 · Cited by 64 · see citing works
Molecular estimation of neurodegeneration pseudotime in older brains
Mukherjee, S., Heath, L. M., Preuß, C., Jayadev, S., Garden, G. A., Greenwood, A. K., Sieberts, S. K., Jager, P. L. D., Ertekin‐Taner, N., Carter, G. W., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19622-y · Cited by 60 · see citing works
Self-citation(ADNI), A. D. N. I., Kleineidam, L., Chouraki, V., Próchnicki, T., van der Lee, S. J., Madrid-Márquez, L., Wagner-Thelen, H., Karaca, I., Weinhold, L., Wolfsgruber, S., et al. (2020) · Acta Neuropathologica · doi:10.1007/s00401-020-02138-6 · Cited by 62 · see citing works
Xu, Y., Au, N. P. B., & Ma, C. H. E. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.896852 · Cited by 63 · see citing works
Karahan, H., Smith, D. C., Kim, B., Dabin, L. C., Al-Amin, M. M., Wijeratne, H. R. S., Pennington, T., Viana di Prisco, G., McCord, B., Lin, P. B.-C., et al. (2021) · Science Advances · doi:10.1126/sciadv.abe3954 · Cited by 53 · see citing works
WASP family proteins: Molecular mechanisms and implications in human disease
Kramer, D. A., Piper, H. K., & Chen, B. (2022) · European Journal of Cell Biology · doi:10.1016/j.ejcb.2022.151244 · Cited by 57 · see citing works
Single-cell peripheral immunoprofiling of Alzheimer’s and Parkinson’s diseases
Phongpreecha, T., Fernandez, R., Mrdjen, D., Culos, A., Gajera, C. R., Wawro, A. M., Stanley, N., Gaudilliere, B. L., Poston, K. L., Aghaeepour, N., et al. (2020) · Science Advances · doi:10.1126/sciadv.abd5575 · Cited by 51 · see citing works
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., da Cunha, C., Phan, J., et al. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00598-4 · Cited by 50 · see citing works
Effect of APOE alleles on the glial transcriptome in normal aging and Alzheimer’s disease
Serrano-Pozo, A., Li, Z., Noori, A., Nguyen, H. N., Mezlini, A., Li, L., Hudry, E., Jackson, R. J., Hyman, B. T., & Das, S. (2021) · Nature Aging · doi:10.1038/s43587-021-00123-6 · Cited by 49 · see citing works
Li, H., Funk, C. C., McFarland, K. N., Dammer, E. B., Allen, M., Carrasquillo, M. M., Levites, Y., Chakrabarty, P., Burgess, J. D., Wang, X., et al. (2021) · Alzheimer s & Dementia · doi:10.1002/alz.12254 · Cited by 41 · see citing works
Self-citationChallenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease
Khani, M., Gibbons, E., Bras, J., & Guerreiro, R. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00505-9 · Cited by 39 · see citing works
MAPT haplotype–stratified GWAS reveals differential association for AD risk variants
Strickland, S. L., Reddy, J. S., Allen, M., N’Songo, A., Burgess, J. D., Corda, M. M., Ballard, T., Wang, X., Carrasquillo, M. M., Biernacka, J. M., et al. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12099 · Cited by 35 · see citing works
Self-citationObst, J., Hall-Roberts, H. L., Smith, T. B., Kreuzer, M., Magno, L., Di Daniel, E., Davis, J. B., & Mead, E. (2021) · Scientific Reports · doi:10.1038/s41598-021-96144-7 · Cited by 36 · see citing works
Rh‐CSF1 attenuates neuroinflammation via the CSF1R/PLCG2/PKCε pathway in a rat model of neonatal HIE
Hu, X., Li, S., Doycheva, D. M., Huang, L., Lenahan, C., Liu, R., Huang, J., Xie, S., Tang, J., Zuo, G., et al. (2020) · Journal of Neuroinflammation · doi:10.1186/s12974-020-01862-w · Cited by 35 · see citing works
Siddiqui, T., Coşacak, M. I., Popova, S., Bhattarai, P., Yilmaz, E., Lee, A.-N. J., Min, Y.-H., Wang, X., Allen, M., Iş, Ö., et al. (2023) · npj Regenerative Medicine · doi:10.1038/s41536-023-00311-5 · Cited by 28 · see citing works
Self-citationErnest James Phillips, T., & Maguire, E. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.652593 · Cited by 33 · see citing works
Variant TREM2 Signaling in Alzheimer's Disease
Olufunmilayo, E. O., & Holsinger, R. M. D. (2022) · Journal of Molecular Biology · doi:10.1016/j.jmb.2022.167470 · Cited by 32 · see citing works
Olive, C., Ibanez, L., Farias, F. H. G., Wang, F., Budde, J. P., Norton, J. B., Gentsch, J., Morris, J. C., Li, Z., Dube, U., et al. (2020) · Journal of Alzheimer’s Disease · doi:10.3233/jad-200019 · Cited by 32 · see citing works
Microglia and its Genetics in Alzheimer's Disease
Liang, X., Wu, H., Colt, M., Guo, X., Pluimer, B. R., Zeng, J., Dong, S., & Zhao, Z. (2021) · Current Alzheimer Research · doi:10.2174/1567205018666211105140732 · Cited by 31 · see citing works
Wang, X., Allen, M., İş, Ö., Reddy, J. S., Tutor‐New, F. Q., Casey, M. C., Carrasquillo, M. M., Oatman, S. R., Min, Y., Asmann, Y. W., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci149904 · Cited by 30 · see citing works
Self-citationReddy, J. S., Heath, L., Linden, A. V., Allen, M., Lopes, K. D. P., Seifar, F., Wang, E., Ma, Y., Poehlman, W. L., Quicksall, Z. S., et al. (2024) · Alzheimer's & Dementia · doi:10.1002/alz.14208 · Cited by 29 · see citing works
Self-citationMicroglia show differential transcriptomic response to Aβ peptide aggregates ex vivo and in vivo
McFarland, K. N., Ceballos, C., Rosario, A. M., Ladd, T. B., Moore, B. D., Golde, G., Wang, X., Allen, M., Ertekin‐Taner, N., Funk, C. C., et al. (2021) · Life Science Alliance · doi:10.26508/lsa.202101108 · Cited by 27 · see citing works
Self-citationFunctional variants identify sex-specific genes and pathways in Alzheimer’s Disease
Bourquard, T., Lee, K. D., Al‐Ramahi, I., Pham, M., Shapiro, D., Lagisetty, Y., Soleimani, S., Mota, S., Wilhelm, K. O., Samieinasab, M., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-38374-z · Cited by 27 · see citing works
Orchestration of synaptic functions by WAVE regulatory complex‐mediated actin reorganization
Han, K. A., & Ko, J. (2023) · Experimental & Molecular Medicine · doi:10.1038/s12276-023-01004-1 · Cited by 31 · see citing works
Papa, R., Picco, P. P., & Gattorno, M. (2019) · Advances in protein chemistry and structural biology · doi:10.1016/bs.apcsb.2019.11.001 · Cited by 27 · see citing works
Rubin, L., Ingram, L. A., Resciniti, N. V., Ashford‐Carroll, B., Leith, K. H., Rose, A., Ureña, S., McCollum, Q., & Friedman, D. B. (2021) · Frontiers in Public Health · doi:10.3389/fpubh.2021.784958 · Cited by 25 · see citing works
Progressive Supranuclear Palsy Syndrome: An Overview
Ichikawa-Escamilla, E., Velasco-Martínez, R. A., & Adalid-Peralta, L. V. (2024) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2024.04.008 · Cited by 26 · see citing works
The effect of Abi3 locus deletion on the progression of Alzheimer’s disease-related pathologies
Karahan, H., Smith, D. C., Kim, B., McCord, B., Mantor, J., John, S. K., Al-Amin, M. M., Dabin, L. C., & Kim, J. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1102530 · Cited by 20 · see citing works
Chronic stress and Alzheimer's disease
Mohammadi, S., Zandi, M., Kataj, P. D., & Karimi‐Zandi, L. (2021) · Biotechnology and Applied Biochemistry · doi:10.1002/bab.2216 · Cited by 22 · see citing works
Zhao, Y., Guo, Q., Tian, J., Liu, W., & Wang, X. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102596 · Cited by 22 · see citing works
Self-citationLim, K.-H., Yang, S., Kim, S.-H., Ko, E., Kang, M., & Joo, J.-Y. (2023) · Brain · doi:10.1093/brain/awac451 · Cited by 21 · see citing works
Investigation of Inflammation in Lewy Body Dementia: A Systematic Scoping Review
Loveland, P. M., Yu, J. J., Churilov, L. P., Yassi, N., & Watson, R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241512116 · Cited by 21 · see citing works
Predictive network analysis identifies JMJD6 and other potential key drivers in Alzheimer’s disease
Merchant, J. P., Zhu, K., Henrion, M., Zaidi, S. S. A., Lau, B., Moein, S., Alamprese, M. L., Pearse, R. V., Bennett, D. A., Ertekin‐Taner, N., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-04791-5 · Cited by 22 · see citing works
Self-citationFu, Y., Zhang, J., Liu, Q., Yang, L., Wu, Q., Yang, X., Wang, L., Ding, N., Xiong, J., Gao, Y., et al. (2023) · Inflammation Research · doi:10.1007/s00011-023-01817-w · Cited by 20 · see citing works
Jayadev, S. (2022) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000001125 · Cited by 21 · see citing works
Deletion of Abi3/Gngt2 influences age-progressive amyloid β and tau pathologies in distinctive ways
Ibanez, K. R., McFarland, K. N., Phillips, J., Allen, M., Lessard, C. B., Zobel, L., De La Cruz, E. G., Shah, S., Vo, Q., Wang, X., et al. (2022) · Alzheimer's Research & Therapy · doi:10.1186/s13195-022-01044-1 · Cited by 18 · see citing works
Self-citationLi, K., Ran, B., Wang, Y., Liu, L., & Li, W. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.999061 · Cited by 18 · see citing works
Tayran, H., Yılmaz, E., Bhattarai, P., Min, Y.-H., Wang, X., Ma, Y.-Y., Wang, N., Jeong, I., Nelson, N., Kassara, N., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100642 · Cited by 17 · see citing works
Self-citationDefective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia
Lee, J. Y., Marian, O. C., & Don, A. (2021) · Neuromolecular medicine · doi:10.1007/s12017-021-08644-4 · Cited by 13 · see citing works
Strickland, S. L., Morel, H., Prusinski, C., Allen, M., Patel, T. A., Carrasquillo, M. M., Conway, O. J., Lincoln, S. J., Reddy, J. S., Nguyen, T., et al. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-01050-0 · Cited by 15 · see citing works
Self-citationWaksmunski, A. R., Grunin, M., Kinzy, T. G., Igo, R. P., Haines, J. L., Cooke Bailey, J. N., & for the International Age-Related Macular Degeneration Genomics Consortium (2019) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.19-27827 · Cited by 14 · see citing works
İş, Ö., Min, Y., Wang, X., Oatman, S. R., Daniel, A. A., & Ertekin‐Taner, N. (2024) · Glia · doi:10.1002/glia.24652 · Cited by 13 · see citing works
Self-citationTranscriptomic signatures of oxytosis/ferroptosis are enriched in Alzheimer’s disease
Currais, A. J. M., Sanchez, K. L., Soriano‐Castell, D., Dar, N. J., Evensen, K. G., Soriano, S., & Maher, P. A. (2025) · BMC Biology · doi:10.1186/s12915-025-02235-6 · Cited by 12 · see citing works
Patel, K. R., Zhu, K., Henrion, M., Beckmann, N. D., Moein, S., Alamprese, M. L., Allen, M., Wang, X., Chan, G., Pertel, T., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.09.143529 · Cited by 9 · see citing works
Self-citationSystems biology of Alzheimer’s Disease: a scoping review of key pathways and mechanisms
Bice, P. J., Nho, K. T., Ertekin‐Taner, N., & Saykin, A. J. (2026) · Molecular Neurodegeneration · doi:10.1186/s13024-026-00934-4 · Cited by 13 · see citing works
Self-citationAkrioti, E.-K., Karamitros, T., Gkaravelas, P., Kouroupi, G., Matsas, R., & Taoufik, E. (2022) · Biomolecules · doi:10.3390/biom12070876 · Cited by 10 · see citing works
PLCG2 rs72824905 Variant Reduces the Risk of Alzheimer’s Disease and Multiple Sclerosis
Chen, F., Zhang, Y., Wang, L., Wang, T., Han, Z., Zhang, H., Gao, S., Hu, Y., & Liu, G. (2021) · Journal of Alzheimer s Disease · doi:10.3233/jad-201140 · Cited by 9 · see citing works
Single-cell peripheral immunoprofiling of Lewy body and Parkinson’s disease in a multi-site cohort
Phongpreecha, T., Mathi, K., Cholerton, B., Fox, E. J., Sigal, N., Espinosa, C. A., Reincke, S. M., Chung, P., Hwang, L.-J., Gajera, C. R., et al. (2024) · Molecular Neurodegeneration · doi:10.1186/s13024-024-00748-2 · Cited by 8 · see citing works
The WAVE complex in developmental and adulthood brain disorders
Kim, H.-G., Berdasco, C., Nairn, A. C., & Kim, Y. (2025) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01386-w · Cited by 8 · see citing works
ABI3 Is a Novel Early Biomarker of Alzheimer’s Disease
Cao, M., Liu, J., Zhang, X., Yang, T., Wang, Y., Hou, Y., Qiao, S., Cui, Y., Wang, Y., & Wang, P. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-215635 · Cited by 8 · see citing works
Shin, Y.-C., Plummer-Medeiros, A. M., Mungenast, A., Choi, H.-W., TenDyke, K., Zhu, X., Shepard, J., Sanders, K., Zhuang, N., Hu, L., et al. (2024) · Science Advances · doi:10.1126/sciadv.adn6037 · Cited by 7 · see citing works
Moura, S., Nasciben, L. B., Ramírez, A. M., Coombs, L. E., Rivero, J., Booven, D. J. V., DeRosa, B. A., Hamilton‐Nelson, K. L., Whitehead, P. L., Adams, L. D., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70031 · Cited by 5 · see citing works
Kramer, D. A., Narvaez-Ortiz, H. Y., Patel, U., Shi, R., Shen, K., Nolen, B. J., Roche, J., & Chen, B. (2023) · eLife · doi:10.7554/elife.88492 · Cited by 7 · see citing works
PLCG2 as a Risk Factor for Alzheimer's Disease.
Tsai, A. P., Dong, C., Preuss, C., Moutinho, M., Lin, P. B.-C., Hajicek, N., Sondek, J., Bissel, S. J., Oblak, A. L., Carter, G. W., et al. (2020) · doi:10.21203/rs.3.rs-38216/v1 · Cited by 7 · see citing works
Developing theragnostics for Alzheimer's disease: Insights from cancer treatment
Lee, H., Choi, H.-J., Jeong, Y. J., Na, Y., Hong, J. T., Han, J. M., Hoe, H., & Lim, K. (2024) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2024.131925 · Cited by 6 · see citing works
PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications
Jiang, P., Wang, M., Zhang, C., Li, X., Wang, Z. Q., Guo, Y., Zhang, J., Yan, W., & Xi, X. (2026) · Journal of Translational Medicine · doi:10.1186/s12967-025-07632-7 · Cited by 6 · see citing works
Alster, P., & Madetko‐Alster, N. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26093927 · Cited by 5 · see citing works
Tayran, H., Yılmaz, E., Bhattarai, P., Min, Y., Wang, X., Ma, Y., Nelson, N. N., Kassara, N., Coşacak, M. İ., Dogru, R. M., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.089273 · Cited by 6 · see citing works
Self-citationAltered lipid metabolic homeostasis in the pathogenesis of Alzheimer’s disease
Marian, O. C., Tran, C. L., & Don, A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819404-1.00023-3 · Cited by 2 · see citing works
(2020) · doi:10.1101/2020.05.19.104216 · Cited by 5 · see citing works
Multi-omics analyses reveal novel effects of PLCγ2 deficiency in the mouse brain
Hopp, S. C., Rogers, J. G., Smith, S., Campos, G., Miller, H., Barannikov, S., Kuri, E. G., Wang, H., Han, X., Bieniek, K. F., et al. (2023) · doi:10.1101/2023.12.06.570499 · Cited by 4 · see citing works
Niu, L., Yin, R., Li, J., Cao, X., Yu, J., Tan, L., & Initiative, A. D. N. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-190153 · Cited by 4 · see citing works
Visvanathan, R., Utsuki, T., Beck, D. E., Lendy, E. K., Sun, K.-L., Liu, Y., Hering, K. W., Mesecar, A. D., Zhang, Z., & Putt, K. S. (2023) · SLAS DISCOVERY · doi:10.1016/j.slasd.2023.03.003 · Cited by 3 · see citing works
Amyloid‐Related Imaging Abnormality (ARIA) Beyond the APOE‐ε4 Allele
Besin, V., Humardani, F. M., Yudiarto, F. L., Ong, P. A., Putra, S. E. D., & Ningrum, R. A. (2025) · Chronic Diseases and Translational Medicine · doi:10.1002/cdt3.70006 · Cited by 2 · see citing works
Mitochondria and Lipids in Cellular Signaling of the Brain: from Physiology to Neurodegeneration
Angelova, P. R., Millichap, L. E., & Abramov, A. Y. (2026) · Molecular and Cellular Biology · doi:10.1080/10985549.2025.2607428 · Cited by 2 · see citing works
Visvanathan, R., Utsuki, T., Beck, D. E., Clayton, B., Lendy, E. K., Sun, K.-L., Liu, Y., Hering, K. W., Mesecar, A. D., Zhang, Z., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0299541 · Cited by 2 · see citing works
PLCG2 as a Risk Factor for Alzheimer's DiseasePreprint
Tsai, A. P., Dong, C., Preuß, C., Moutinho, M., Lin, P. B., Hajicek, N., Sondek, J., Bissel, S. J., Oblak, A. L., Carter, G. W., et al. (2020) · doi:10.21203/rs.3.rs-33082/v1 · Cited by 2 · see citing works
Wang, X., Allen, M., Reddy, J. S., Carrasquillo, M. M., Asmann, Y. W., Funk, C. C., Nguyen, T., Malphrus, K. G., Younkin, S. G., Dickson, D. W., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.18.426999 · Cited by 2 · see citing works
Self-citationReddy, J. S., Wang, X., Allen, M., Carrasquillo, M. M., Biernacka, J. M., Jenkins, G. D., Coombes, B. J., Belbin, O., Golde, T. E., Ertekin‐Taner, N., et al. (2022) · medRxiv · doi:10.1101/2022.07.12.22277557 · Cited by 2 · see citing works
Self-citationJeskanen, H., Heikkinen, S., Kervinen, I., Lehtisalo, J., Ngandu, T., Willman, R.-M., Rosa, J., Hoffmann, D., FinnGen, Leinonen, V., et al. (2026) · Alzheimer's Research & Therapy · doi:10.1186/s13195-026-01957-1 · Cited by 1 · see citing works
Bevan, R. J., Maguire, E., Mackinnon, E., Salis, E., Phillips, T., Simonazzi, E., Vassileva, M., Allen, N. D., Williams, J., & Taylor, P. R. (2026) · Glia · doi:10.1002/glia.70192 · Cited by 1 · see citing works
Ruíz Moleón, V., Fotouhi, M., Alende, C., Ayoubi, R., Bedford, L. M., Southern, K., Richardson, T. I., Laflamme, C., NeuroSGC/YCharOS/EDDU collaborative group, & ABIF consortium (2024) · F1000Research · doi:10.12688/f1000research.146156.1 · Cited by 1 · see citing works
Decoding Alzheimer's Disease One Cell Class at a Time
Darvas, M., Cook, D. G., & Scimemi, A. (2026) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-026-01685-y · Cited by 1 · see citing works
Koivumäki, M., Martiskainen, H., Takalo, M., Lehtisalo, J., Ngandu, T., FinnGen, Snellman, A., Hiltunen, M. O., & Rinne, J. O. (2026) · Alzheimer s Research & Therapy · doi:10.1186/s13195-026-01984-y · Cited by 1 · see citing works
Abi3 S212F Alzheimer's disease variant alters plaque structure and disrupts microglia
Butler, C. A., Gee, M. S., O'Gara, K., Milinkeviciute, G., Cunha, C. D., Kawauchi, S., Lu, Y.-H., Kwang, N. E., Tsourmas, K. I., Prekopa, C. A., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71452 · Cited by 1 · see citing works
Causal associations between neuroinflammation and Alzheimer's disease risk
Lin, K., & Yu, Y. (2022) · International Conference on Bioinformatics and Biomedical Science (ICBBS) · doi:10.1145/3571532.3571536 · Cited by 1 · see citing works
Identification of novel Alzheimer’s disease genes co-expressed with TREM2Preprint
Reddy, J. S., Allen, M., Wang, X., Biernacka, J. M., Coombes, B. J., Jenkins, G. D., Sinnwell, J. P., Carrasquillo, M. M., Pottier, C. P., Ren, Y., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.11.13.381640 · Cited by 1 · see citing works
Self-citationReddy, J. S., Wang, X., Allen, M., Carrasquillo, M. M., Biernacka, J. M., Jenkins, G. D., Coombes, B. J., Belbin, O., Golde, T. E., Ertekin‐Taner, N., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-1885551/v1 · Cited by 1 · see citing works
Self-citationSingle-Cell Peripheral Immunoprofiling of Lewy Body Disease in a Multi-site CohortPreprint
Phongpreecha, T., Mathi, K., Cholerton, B., Fox, E. J., Sigal, N., Espinosa, C. A., Reincke, S. M., Chung, P., Hwang, L.-J., Gajera, C. R., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.30.578082 · Cited by 1 · see citing works
Gutierrez-Kuri, E., Marie Garcia-Rogers, J. L., Perez, J., Smith, S., Kenwood, M. R., Archuleta, K. S., Xiao, Y., Campos, G., Barannikov, S., Wang, H., et al. (2026) · doi:10.64898/2026.07.13.738356
Advances in identifying coding variants of common complex diseases
Cai, M., Ran, D., & Zhang, X. (2019) · Journal of Bio-X Research · doi:10.1097/jbr.0000000000000046
Predictive Network Analysis Identifies JMJD6 and Other Novel Key Drivers in Alzheimer’s DiseasePreprint
Merchant, J. P., Zhu, K., Henrion, M., Zaidi, S. S. A., Lau, B., Moein, S., Alamprese, M. L., Pearse, R. V., Bennett, D. A., Ertekin‐Taner, N., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.19.512949
Self-citationEmotional stress and cardiovascular health: Impacts on neurodegenerative disease progression
El‐Aziz, M. K. A., Wadan, A. S., Albahttiti, A. T. I., & Moradikor, N. (2025) · Progress in brain research · doi:10.1016/bs.pbr.2025.04.004 · Cited by 1 · see citing works
The protective PLCG2 variants delay Alzheimer's disease onset age in APOE ϵ4 carriersPreprint
Jeskanen, H., Heikkinen, S., Kervinen, I., Lehtisalo, J., Ngandu, T., Willman, R.-M., Rosa, J., Hoffmann, D., FinnGen, Leinonen, V., et al. (2025) · medRxiv · doi:10.1101/2025.09.22.25336304
Koivumäki, M., Martiskainen, H., Takalo, M., Lehtisalo, J., Ngandu, T., Snellman, A., Hiltunen, M., & Rinne, J. O. (2025) · doi:10.21203/rs.3.rs-7823342/v1
- Authors
- Conway, O. J., Carrasquillo, M. M., Wang, X., Bredenberg, J. M., Reddy, J. S., Strickland, S. L., Younkin, C. S., Burgess, J. D., Allen, M., Lincoln, S. J., Nguyen, T., Malphrus, K. G., Soto, A. I., Walton, R. L., Boeve, B. F., Petersen, R. C., Lucas, J. A., Ferman, T. J., Cheshire, W. P., van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Graff-Radford, N. R., & Ertekin-Taner, N.
- Affiliations
- Mayo Clinic in Florida (US)
- Mayo Clinic (US)
- ORCID
- Venue
- Molecular Neurodegeneration
- Published
- 2018-10-11
- Volume
- 13
- Issue
- 1
- Pages
- 53-53
- ISSN
- 1750-1326 (ISSN-L)
- PMC
- PMC6190665
- OpenAlex
- W2896393831
- Cited by
- 112
- References
- 57
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 13 · 2023: 12 · 2022: 28 · 2021: 17 · 2020: 20 · 2019: 4 · 2018: 2
- FWCI
- 7.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Molecular Neurodegeneration (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institute on Aging (RF AG051504, U01 AG046139)
- National Institute of Neurological Disorders and Stroke (R01 NS080820, R01 NS078086)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- PLCγ2, missense mutations, Alzheimer's disease, neurodegenerative diseases, progressive supranuclear palsy, Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, genetic risk factors, African Americans, temporal cortex, cerebellum, co-expression network, gene regulatory networks, transcription factor binding sites, protein-protein interaction network
- MeSH terms
- Aged, Aged, 80 and over, Black or African American, Brain, Female, Humans, Male, Risk Factors, Microglia, Neurodegenerative Diseases, Mutation, Missense, White People, Adaptor Proteins, Signal Transducing, Phospholipase C gamma
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
