The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
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.
Overview
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
Figures
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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 Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Subsequently, this association was replicated by independent groups (9, 10).”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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 Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measured
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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 PLCγ2 Compacts Plaques, Redistributes Microglia, and Protects Synapses in App NL ‐G‐F Mice (2026) · cites this paper as Conway et al. 2018
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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
The cited source says what the claim attributes to it.
In the citing paper
“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
The cited source says what the claim attributes to it.
In the citing paper
“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]
The cited source says what the claim attributes to it.
In the citing paper
“For example, a rare coding missense variant in the ABI3 gene is associated with an increased risk of AD (8, 9).”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The cited source says what the claim attributes to it.
In the citing paper
“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 Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The cited source says what the claim attributes to it.
In the citing paper
“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 ABI3 mutation drives microglial dysfunction and Alzheimer's risk (2026) · cites this paper as [16]
The cited source says what the claim attributes to it.
In the citing paper
“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 check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“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 PLCγ2 Compacts Plaques, Redistributes Microglia, and Protects Synapses in App NL ‐G‐F Mice (2026) · cites this paper as Conway et al. 2018
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.
Citations
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
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
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
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 12,145
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
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
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
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
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
TREM2 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
Self-citation
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
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
“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
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
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
Hoogmartens, J., Cacace, R., & Broeckhoven, C. V. (2021) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12155 · Cited by 109
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 96
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
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
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
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 65
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
Alster, P., Madetko‐Alster, N., Koziorowski, D., & Friedman, A. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00893 · Cited by 68
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
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
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 62
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
Xu, Y., Au, N. P. B., & Ma, C. H. E. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.896852 · Cited by 68
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
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
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 52
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 55
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
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 42
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
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
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
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
Siddiqui, T., Coşacak, M. İ., Popova, S. D., Bhattarai, P., Yılmaz, E., Lee, A., Min, Y., Wang, X., Allen, M., İş, Ö., et al. (2023) · npj Regenerative Medicine · doi:10.1038/s41536-023-00311-5 · Cited by 37
Self-citationErnest James Phillips, T., & Maguire, E. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.652593 · Cited by 33
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 33
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
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 32
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
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
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 31
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 32
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
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
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 27
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 31
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
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
Zhao, Y., Guo, Q., Tian, J., Liu, W., & Wang, X. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102596 · Cited by 23
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
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 24
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 23
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
Jayadev, S. (2022) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000001125 · Cited by 21
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
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
Tayran, H., Yılmaz, E., Bhattarai, P., Min, Y., Wang, X., Ma, Y., Wang, N., Jeong, I., Nelson, N. N., Kassara, N., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100642 · Cited by 18
Self-citationDefective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia
Lee, J. Y., Marian, O. C., & Don, A. S. (2021) · NeuroMolecular Medicine · doi:10.1007/s12017-021-08644-4 · Cited by 18
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
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
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
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 14
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
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 14
Self-citationAkrioti, E.-K., Karamitros, T., Gkaravelas, P., Kouroupi, G., Matsas, R., & Taoufik, E. (2022) · Biomolecules · doi:10.3390/biom12070876 · Cited by 10
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
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 9
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
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
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
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 6
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
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
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
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 7
Alster, P., & Madetko‐Alster, N. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26093927 · Cited by 5
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
Self-citationAltered lipid metabolic homeostasis in the pathogenesis of Alzheimer’s disease
Marian, O. C., Tran, C., & Don, A. S. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819404-1.00023-3 · Cited by 5
(2020) · doi:10.1101/2020.05.19.104216 · Cited by 5
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
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
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
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 3
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
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
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
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
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
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
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
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
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
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
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 2
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
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
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
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
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. A. J., Branden, L., Moein, S., Alamprese, M., Pearse, R., Bennett, D. A., Ertekin-Taner, N., et al. (2022) · bioRxiv · doi:10.1101/2022.10.19.512949 · Cited by 1
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
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
Metadata
- 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
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › 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
