Microglial Phagocytosis: A Disease-Associated Process Emerging from Alzheimer’s Disease Genetics

Alzheimer's disease: the amyloid cascade hypothesis

Hardy, J. A., & Higgins, G. A. (1992) · Science · doi:10.1126/science.1566067 · Cited by 7,484

A Unique Microglia Type Associated with Restricting Development of Alzheimer’s Disease

Keren-Shaul, H., Spinrad, A., Weiner, A., Matcovitch-Natan, O., Dvir-Szternfeld, R., Ulland, T. K., David, E., Baruch, K., Lara-Astaiso, D., Toth, B., et al. (2017) · Cell · doi:10.1016/j.cell.2017.05.018 · Cited by 5,493

2016 Alzheimer's disease facts and figures

Alzheimer's Association (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.03.001 · Cited by 5,069

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659

Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease

(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326

The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases

Krasemann, S., Madore, C., Cialic, R., Baufeld, C., Calcagno, N., El Fatimy, R., Beckers, L., O’Loughlin, E., Xu, Y., Fanek, Z., et al. (2017) · Immunity · doi:10.1016/j.immuni.2017.08.008 · Cited by 2,979

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0358-2 · Cited by 2,946

Variant of TREM2 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

A Gene Network Regulating Lysosomal Biogenesis and Function

Sardiello, M., Palmieri, M., di Ronza, A., Medina, D. L., Valenza, M., Gennarino, V. A., Di Malta, C., Donaudy, F., Embrione, V., Polishchuk, R. S., et al. (2009) · Science · doi:10.1126/science.1174447 · Cited by 2,543

2020 Alzheimer's disease facts and figures

(2020) · Alzheimer's & Dementia · doi:10.1002/alz.12068 · Cited by 2,353

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

Rogaev, E. I., Sherrington, R., Rogaeva, E. A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holman, K., Tsuda, T., et al. (1995) · Nature · doi:10.1038/376775a0 · Cited by 2,052

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901

Transmission and spreading of tauopathy in transgenic mouse brain

Clavaguera, F., Bolmont, T., Crowther, R. A., Abramowski, D., Frank, S., Probst, A., Fraser, G., Stalder, A. K., Beibel, M., Staufenbiel, M., et al. (2009) · Nature Cell Biology · doi:10.1038/ncb1901 · Cited by 1,803

TREM2 Lipid Sensing Sustains the Microglial Response in an Alzheimer’s Disease Model

Wang, Y., Cella, M., Mallinson, K., Ulrich, J. D., Young, K. L., Robinette, M. L., Gilfillan, S., Krishnan, G. M., Sudhakar, S., Zinselmeyer, B. H., et al. (2015) · Cell · doi:10.1016/j.cell.2015.01.049 · Cited by 1,736

Endocytic recycling

Maxfield, F. R., & McGraw, T. E. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1315 · Cited by 1,729

Alzheimer’s Disease: The Challenge of the Second Century

Holtzman, D. M., Morris, J. C., & Goate, A. M. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002369 · Cited by 1,424

Lipid-droplet-accumulating microglia represent a dysfunctional and proinflammatory state in the aging brain

Marschallinger, J., Iram, T., Zardeneta, M., Lee, S. E., Lehallier, B., Haney, M. S., Pluvinage, J. V., Mathur, V., Hahn, O., Morgens, D. W., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-019-0566-1 · Cited by 1,384

Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

Israel, M. A., Yuan, S. H., Bardy, C., Reyna, S. M., Mu, Y., Herrera, C., Hefferan, M. P., Van Gorp, S., Nazor, K. L., Boscolo, F. S., et al. (2012) · Nature · doi:10.1038/nature10821 · Cited by 1,253

An environment-dependent transcriptional network specifies human microglia identity

Gosselin, D., Skola, D., Coufal, N. G., Holtman, I. R., Schlachetzki, J. C. M., Sajti, E., Jaeger, B. N., O’Connor, C., Fitzpatrick, C., Pasillas, M. P., et al. (2017) · Science · doi:10.1126/science.aal3222 · Cited by 1,220

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

Seshadri, S. (2010) · JAMA · doi:10.1001/jama.2010.574 · Cited by 1,219

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

Rogaeva, E., Meng, Y., Lee, J. H., Gu, Y., Kawarai, T., Zou, F., Katayama, T., Baldwin, C. T., Cheng, R., Hasegawa, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1943 · Cited by 1,167

APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types

Lin, Y.-T., Seo, J., Gao, F., Feldman, H. M., Wen, H.-L., Penney, J., Cam, H. P., Gjoneska, E., Raja, W. K., Cheng, J., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.05.008 · Cited by 1,125

Efferocytosis in health and disease

Doran, A. C., Yurdagul, A., & Tabas, I. (2020) · Nature Reviews Immunology · doi:10.1038/s41577-019-0240-6 · Cited by 1,066

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

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 1,012

Alzheimer’s Disease Risk Gene CD33 Inhibits Microglial Uptake of Amyloid Beta

Griciuc, A., Serrano-Pozo, A., Parrado, A. R., Lesinski, A. N., Asselin, C. N., Mullin, K., Hooli, B., Choi, S. H., Hyman, B. T., & Tanzi, R. E. (2013) · Neuron · doi:10.1016/j.neuron.2013.04.014 · Cited by 1,004

TREM2 Binds to Apolipoproteins, Including APOE and CLU/APOJ, and Thereby Facilitates Uptake of Amyloid-Beta by Microglia

Yeh, F. L., Wang, Y., Tom, I., Gonzalez, L. C., & Sheng, M. (2016) · Neuron · doi:10.1016/j.neuron.2016.06.015 · Cited by 943

TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy

Yuan, P., Condello, C., Keene, C. D., Wang, Y., Bird, T. D., Paul, S. M., Luo, W., Colonna, M., Baddeley, D., & Grutzendler, J. (2016) · Neuron · doi:10.1016/j.neuron.2016.05.003 · Cited by 817

Brain cell type–specific enhancer–promoter interactome maps and disease - risk association

Nott, A., Holtman, I. R., Coufal, N. G., Schlachetzki, J. C. M., Yu, M., Hu, R., Han, C. Z., Pena, M., Xiao, J., Wu, Y., et al. (2019) · Science · doi:10.1126/science.aay0793 · Cited by 699

TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer’s disease mouse models

Jay, T. R., Miller, C. M., Cheng, P. J., Graham, L. C., Bemiller, S., Broihier, M. L., Xu, G., Margevicius, D., Karlo, J. C., Sousa, G. L., et al. (2015) · Journal of Experimental Medicine · doi:10.1084/jem.20142322 · Cited by 682

Regulation of Clathrin-Mediated Endocytosis

Mettlen, M., Chen, P.-H., Srinivasan, S., Danuser, G., & Schmid, S. L. (2018) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-062917-012644 · Cited by 614

Janus-faced microglia: beneficial and detrimental consequences of microglial phagocytosis

Sierra, A., Abiega, O., Shahraz, A., & Neumann, H. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00006 · Cited by 574

CD33 Alzheimer's disease locus: altered monocyte function and amyloid biology

Initiative, T. A. D. N., Bradshaw, E. M., Chibnik, L. B., Keenan, B. T., Ottoboni, L., Raj, T., Tang, A., Rosenkrantz, L. L., Imboywa, S., Lee, M., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3435 · Cited by 570

GWAS on family history of Alzheimer’s disease

Marioni, R. E., Harris, S. E., Zhang, Q., McRae, A. F., Hagenaars, S. P., Hill, W. D., Davies, G., Ritchie, C. W., Gale, C. R., Starr, J. M., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0150-6 · Cited by 564

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes

Schwartzentruber, J., Cooper, S., Liu, J. Z., Barrio-Hernandez, I., Bello, E., Kumasaka, N., Young, A. M. H., Franklin, R. J. M., Johnson, T., Estrada, K., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00776-w · Cited by 532

TREM2 deficiency attenuates neuroinflammation and protects against neurodegeneration in a mouse model of tauopathy

Leyns, C. E. G., Ulrich, J. D., Finn, M. B., Stewart, F. R., Koscal, L. J., Remolina Serrano, J., Robinson, G. O., Anderson, E., Colonna, M., & Holtzman, D. M. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1710311114 · Cited by 517

Genome-wide meta-analysis, fine-mapping, and integrative prioritization identify new Alzheimer’s disease risk genes

(2020) · doi:10.1101/2020.01.22.20018424 · Cited by 505

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.021 · Cited by 489

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Clark, R. F., Hutton, M., Fuldner, M., Froelich, S., Karran, E., Talbot, C., Crook, R., Lendon, C., Prihar, G., He, C., et al. (1995) · Nature Genetics · doi:10.1038/ng1095-219 · Cited by 474

Modeling amyloid beta and tau pathology in human cerebral organoids

Gonzalez, C., Armijo, E., Bravo-Alegria, J., Becerra-Calixto, A., Mays, C. E., & Soto, C. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0229-8 · Cited by 430

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

The International Genomics of Alzheimer's Project, Huang, K.-L., Initiative, T. A. D. N., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4587 · Cited by 423

Common polygenic variation enhances risk prediction for Alzheimer’s disease

Escott-Price, V., Sims, R., Bannister, C., Harold, D., Vronskaya, M., Majounie, E., Badarinarayan, N., GERAD/PERADES, consortia, I., Morgan, K., et al. (2015) · Brain · doi:10.1093/brain/awv268 · Cited by 414

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

GERAD consortium, Chapuis, J., Hansmannel, F., Gistelinck, M., Mounier, A., Van Cauwenberghe, C., Kolen, K. V., Geller, F., Sottejeau, Y., Harold, D., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.1 · Cited by 407

Amyloid precursor protein and endosomal-lysosomal dysfunction in Alzheimer's disease: inseparable partners in a multifactorial disease

Nixon, R. A. (2017) · The FASEB Journal · doi:10.1096/fj.201700359 · Cited by 400

Clusterin in Alzheimer’s Disease: Mechanisms, Genetics, and Lessons From Other Pathologies

Foster, E. M., Dangla-Valls, A., Lovestone, S., Ribe, E. M., & Buckley, N. J. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00164 · Cited by 381

Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo

Hasselmann, J., Coburn, M. A., England, W., Figueroa Velez, D. X., Kiani Shabestari, S., Tu, C. H., McQuade, A., Kolahdouzan, M., Echeverria, K., Claes, C., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.07.002 · Cited by 380

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

Guerreiro, R. J., Lohmann, E., Brás, J. M., Gibbs, J. R., Rohrer, J. D., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.579 · Cited by 374

Apolipoprotein E, Receptors, and Modulation of Alzheimer’s Disease

Zhao, N., Liu, C.-C., Qiao, W., & Bu, G. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.03.003 · Cited by 370

TREM2 deficiency impairs chemotaxis and microglial responses to neuronal injury

Mazaheri, F., Snaidero, N., Kleinberger, G., Madore, C., Daria, A., Werner, G., Krasemann, S., Capell, A., Trümbach, D., Wurst, W., et al. (2017) · The EMBO Reports · doi:10.15252/embr.201743922 · Cited by 351

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

DemGene, Steinberg, S., Stefansson, H., Jonsson, T., Johannsdottir, H., Ingason, A., Helgason, H., Sulem, P., Magnusson, O. T., Gudjonsson, S. A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3246 · Cited by 324

Clathrin Assembly Lymphoid Myeloid Leukemia (CALM) Protein: Localization in Endocytic-coated Pits, Interactions with Clathrin, and the Impact of Overexpression on Clathrin-mediated Traffic

Tebar, F., Bohlander, S. K., & Sorkin, A. (1999) · Molecular Biology of the Cell · doi:10.1091/mbc.10.8.2687 · Cited by 320

Interpretation of risk loci from genome-wide association studies of Alzheimer's disease

Andrews, S. J., Fulton-Howard, B., & Goate, A. (2020) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30435-1 · Cited by 314

Humanized TREM2 mice reveal microglia-intrinsic and -extrinsic effects of R47H polymorphism

Song, W. M., Joshita, S., Zhou, Y., Ulland, T. K., Gilfillan, S., & Colonna, M. (2018) · Journal of Experimental Medicine · doi:10.1084/jem.20171529 · Cited by 305

TREM2 regulates microglial cell activation in response to demyelination in vivo

Cantoni, C., Bollman, B., Licastro, D., Xie, M., Mikesell, R., Schmidt, R., Yuede, C. M., Galimberti, D., Olivecrona, G., Klein, R. S., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1388-1 · Cited by 296

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

Two pathways converge at CED-10 to mediate actin rearrangement and corpse removal in C. elegans

Kinchen, J. M., Cabello, J., Klingele, D., Wong, K., Feichtinger, R., Schnabel, H., Schnabel, R., & Hengartner, M. O. (2005) · Nature · doi:10.1038/nature03263 · Cited by 266

Sorting of the Alzheimer's Disease Amyloid Precursor Protein Mediated by the AP-4 Complex

Burgos, P. V., Mardones, G. A., Rojas, A. L., daSilva, L. L. P., Prabhu, Y., Hurley, J. H., & Bonifacino, J. S. (2010) · Developmental Cell · doi:10.1016/j.devcel.2010.01.015 · Cited by 258

Progranulin, lysosomal regulation and neurodegenerative disease

Kao, A. W., McKay, A. S., Singh, P. P., Brunet, A., & Huang, E. J. (2017) · Nature reviews. Neuroscience · doi:10.1038/nrn.2017.36 · Cited by 252

The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer's disease

Cheng-Hathaway, P. J., Reed-Geaghan, E. G., Jay, T. R., Casali, B. T., Bemiller, S. M., Puntambekar, S. S., von Saucken, V. E., Williams, R. Y., Karlo, J. C., Moutinho, M., et al. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0262-8 · Cited by 252

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0112-7 · Cited by 248

Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models

Minami, S. S., Min, S.-W., Krabbe, G., Wang, C., Zhou, Y., Asgarov, R., Li, Y., Martens, L. H., Elia, L. P., Ward, M. E., et al. (2014) · Nature Medicine · doi:10.1038/nm.3672 · Cited by 237

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

Brouwers, N., Van Cauwenberghe, C., Engelborghs, S., Lambert, J.-C., Bettens, K., Le Bastard, N., Pasquier, F., Montoya, A. G., Peeters, K., Mattheijssens, M., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.24 · Cited by 227

Endo-lysosomal dysregulations and late-onset Alzheimer’s disease: impact of genetic risk factors

Van Acker, Z. P., Bretou, M., & Annaert, W. (2019) · Molecular Neurodegeneration · doi:10.1186/s13024-019-0323-7 · Cited by 222

TREM2 haplodeficiency in mice and humans impairs the microglia barrier function leading to decreased amyloid compaction and severe axonal dystrophy

Yuan, P., Condello, C., Keene, C. D., Wang, Y., Bird, T. D., Paul, S. M., Luo, W., Colonna, M., Baddeley, D., & Grutzendler, J. (2016) · Neuron · doi:10.1016/j.neuron.2016.09.016 · Cited by 219

AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling

Pant, S., Sharma, M., Patel, K., Caplan, S., Carr, C. M., & Grant, B. D. (2009) · Nature Cell Biology · doi:10.1038/ncb1986 · Cited by 218

The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics

De Roeck, A., Van Broeckhoven, C., & Sleegers, K. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01994-1 · Cited by 212

Evidence that the rab5 effector APPL1 mediates APP-βCTF-induced dysfunction of endosomes in Down syndrome and Alzheimer’s disease

Kim, S., Sato, Y., Mohan, P. S., Peterhoff, C., Pensalfini, A., Rigoglioso, A., Jiang, Y., & Nixon, R. A. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.97 · Cited by 212

Endocytosis and Autophagy: Exploitation or Cooperation?

Tooze, S. A., Abada, A., & Elazar, Z. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a018358 · Cited by 202

Coding mutations in SORL1 and Alzheimer disease

Vardarajan, B. N., Zhang, Y., Lee, J. H., Cheng, R., Bohm, C., Ghani, M., Reitz, C., Reyes‐Dumeyer, D., Shen, Y., Rogaeva, E., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24305 · Cited by 191

Genomic variants, genes, and pathways of Alzheimer's disease: An overview

Naj, A. C., & Schellenberg, G. D. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32499 · Cited by 186

Lipids in Alzheimer’s disease: A century-old story

Foley, P. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2010.05.004 · Cited by 186

Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease: A Genome-Wide Association Study

Naj, A. C., Jun, G., Reitz, C., Kunkle, B. W., Perry, W., Park, Y. S., Beecham, G. W., Rajbhandary, R. A., Hamilton-Nelson, K. L., Wang, L.-S., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.1491 · Cited by 185

BIN1 favors the spreading of Tau via extracellular vesicles

Crotti, A., Sait, H. R., McAvoy, K. M., Estrada, K., Ergun, A., Szak, S., Marsh, G., Jandreski, L., Peterson, M., Reynolds, T. L., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-45676-0 · Cited by 171

AP-4 mediates export of ATG9A from the trans -Golgi network to promote autophagosome formation

Mattera, R., Park, S. Y., Pace, R. D., Guardia, C. M. A., & Bonifacino, J. S. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1717327114 · Cited by 170

The new genetic landscape of Alzheimer’s disease: from amyloid cascade to genetically driven synaptic failure hypothesis?

Dourlen, P., Kilinc, D., Malmanche, N., Chapuis, J., & Lambert, J.-C. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02004-0 · Cited by 168

Bin1 and CD2AP polarise the endocytic generation of beta‐amyloid

Ubelmann, F., Burrinha, T., Salavessa, L., Gomes, R., Ferreira, C., Moreno, N., & Guimas Almeida, C. (2017) · The EMBO Reports · doi:10.15252/embr.201642738 · Cited by 165

Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease

Reitz, C. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.346 · Cited by 162

Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis

Garcia-Reitboeck, P., Phillips, A., Piers, T. M., Villegas-Llerena, C., Butler, M., Mallach, A., Rodrigues, C., Arber, C. E., Heslegrave, A., Zetterberg, H., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.07.094 · Cited by 162

Opposing effects of viral mediated brain expression of apolipoprotein E2 (apoE2) and apoE4 on apoE lipidation and Aβ metabolism in apoE4-targeted replacement mice

Hu, J., Liu, C.-C., Chen, X.-F., Zhang, Y.-W., Xu, H., & Bu, G. (2015) · Molecular Neurodegeneration · doi:10.1186/s13024-015-0001-3 · Cited by 161

AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

Davies, A. K., Itzhak, D. N., Edgar, J. R., Archuleta, T. L., Hirst, J., Jackson, L. P., Robinson, M. S., & Borner, G. H. H. (2018) · Nature Communications · doi:10.1038/s41467-018-06172-7 · Cited by 153

CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer’s disease susceptibility

Raj, T., Ryan, K. J., Replogle, J. M., Chibnik, L. B., Rosenkrantz, L., Tang, A., Rothamel, K., Stranger, B. E., Bennett, D. A., Evans, D. A., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt666 · Cited by 144

Effect of Clathrin Assembly Lymphoid Myeloid Leukemia Protein Depletion on Clathrin Coat Formation

Meyerholz, A., Hinrichsen, L., Groos, S., Esk, C., Brandes, G., & Ungewickell, E. J. (2005) · Traffic · doi:10.1111/j.1600-0854.2005.00355.x · Cited by 144

Alzheimer’s disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph

Magno, L., Lessard, C. B., Martins, M., Lang, V., Cruz, P., Asi, Y., Katan, M., Bilsland, J., Lashley, T., Chakrabarty, P., et al. (2019) · Alzheimer's Research & Therapy · doi:10.1186/s13195-019-0469-0 · Cited by 143

CD2AP/CMS Regulates Endosome Morphology and Traffic to the Degradative Pathway Through its Interaction with Rab4 and c‐Cbl

Cormont, M., Metón, I., Mari, M. C., Monzo, P., Keslair, F., Gaskin, C., McGraw, T. E., & MARCHAND‐BRUSTEL, Y. L. (2003) · Traffic · doi:10.1034/j.1600-0854.2003.40205.x · Cited by 138

Polygenic risk score of sporadic late‐onset Alzheimer's disease reveals a shared architecture with the familial and early‐onset forms

Cruchaga, C., Del‐Aguila, J. L., Saef, B., Black, K., Fernandez, M. V., Budde, J., Ibanez, L., Deming, Y., Kapoor, M., Tosto, G., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2017.08.013 · Cited by 138

The endocytic pathway in microglia during health, aging and Alzheimer’s disease

Solé-Domènech, S., Cruz, D. L., Capetillo-Zarate, E., & Maxfield, F. R. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.07.002 · Cited by 133

Clusterin facilitates apoptotic cell clearance and prevents apoptotic cell-induced autoimmune responses

Cunin, P., Beauvillain, C., Miot, C., Augusto, J., Preisser, L., Blanchard, S., Pignon, P., Scotet, M., Garo, E., Frémaux, I., et al. (2016) · Cell Death and Disease · doi:10.1038/cddis.2016.113 · Cited by 132

Microglial Corpse Clearance: Lessons From Macrophages

Márquez-Ropero, M., Benito, E., Plaza‐Zabala, A., & Sierra, A. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.00506 · Cited by 115

Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations

Lambert, J., Zélénika, D., Hiltunen, M., Chouraki, V. A., Combarros, O., Bullido, M. J., Tognoni, G., Fiévet, N., Boland, A., Arosio, B., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.11.022 · Cited by 111

Focal adhesions regulate Aβ signaling and cell death in Alzheimer's disease

Caltagarone, J., Jing, Z., & Bowser, R. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2006.11.007 · Cited by 102

Repression of phagocytosis by human CD33 is not conserved with mouse CD33

Bhattacherjee, A., Rodrigues, E., Jung, J., Luzentales-Simpson, M., Enterina, J. R., Galleguillos, D., Laurent, C. D. S., Nakhaei‐Nejad, M., Fuchsberger, F. F., Streith, L., et al. (2019) · Communications Biology · doi:10.1038/s42003-019-0698-6 · Cited by 101

Evaluation of CD33 as a genetic risk factor for Alzheimer’s disease

Estus, S., Shaw, B. C., Devanney, N. A., Katsumata, Y., Press, E., & Fardo, D. W. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02000-4 · Cited by 98

Multimodal Brain Imaging Reveals Structural Differences in Alzheimer’s Disease Polygenic Risk Carriers: A Study in Healthy Young Adults

Foley, S. F., Tansey, K. E., Caseras, X., Lancaster, T. M., Bracht, T., Parker, G. D., Hall, J., Williams, J. H., & Linden, D. E. J. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.02.033 · Cited by 98

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice

Götzl, J. K., Colombo, A.-V., Fellerer, K., Reifschneider, A., Werner, G., Tahirović, S., Haass, C., & Capell, A. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0281-5 · Cited by 94

Analysis of the Putative Role of CR1 in Alzheimer’s Disease: Genetic Association, Expression and Function

Fonseca, M. I., Chu, S., Pierce, A. L., Brubaker, W. D., Hauhart, R. E., Mastroeni, D., Clarke, E. V., Rogers, J., Atkinson, J. P., & Tenner, A. J. (2016) · PLOS ONE · doi:10.1371/journal.pone.0149792 · Cited by 87

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience

Initiative, F. T. A. D. N., Ridge, P. G., Karch, C. M., Hsu, S., Arano, I., Teerlink, C. C., Ebbert, M. T. W., Gonzalez Murcia, J. D., Farnham, J. M., Damato, A. R., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0486-1 · Cited by 83

TREM2‐dependent effects on microglia in Alzheimer's disease

Zhou, Y., Ulland, T. K., & Colonna, M. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00202 · Cited by 82

Alzheimer's Disease Risk Factor Pyk2 Mediates Amyloid-β-Induced Synaptic Dysfunction and Loss

Salazar, S. V., Cox, T. O., Lee, S., Brody, A. H., Chyung, A. S., Haas, L. T., & Strittmatter, S. M. (2019) · The Journal of Neuroscience · doi:10.1523/jneurosci.1873-18.2018 · Cited by 77

A novel Cas family member, HEPL, regulates FAK and cell spreading

Singh, M. K., Dadke, D., Nicolas, E., Serebriiskii, I. G., Apostolou, S., Canutescu, A., Egleston, B. L., & Golemis, E. A. (2008) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-09-0953 · Cited by 74

Microglial Progranulin: Involvement in Alzheimer’s Disease and Neurodegenerative Diseases

Mendsaikhan, A., Tooyama, I., & Walker, D. G. (2019) · Cells · doi:10.3390/cells8030230 · Cited by 72

Dysregulation of Rab5‐mediated endocytic pathways in Alzheimer's disease

Xu, W. L., Fang, F., Ding, J., & Wu, C. (2018) · Traffic · doi:10.1111/tra.12547 · Cited by 72

Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease

Sheng, J., Su, L., Xu, Z., & Chen, G. (2014) · Gene · doi:10.1016/j.gene.2014.03.041 · Cited by 64

RAB10: an Alzheimer’s disease resilience locus and potential drug target

Tavana, J., Rosene, M., Jensen, N., Ridge, P. G., Kauwe, J. S. K., & Karch, C. M. (2018) · Clinical Interventions in Aging · doi:10.2147/cia.s159148 · Cited by 62

Regulatory Roles of Sortilin and SorLA in Immune-Related Processes

Hugo Talbot, A., Saada, S., Naves, T., Gallet, P., Fauchais, A. L., & Jauberteau, M. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2018.01507 · Cited by 60

Characterization of RIN3 as a Guanine Nucleotide Exchange Factor for the Rab5 Subfamily GTPase Rab31

Kajiho, H., Sakurai, K., Minoda, T., Yoshikawa, M., Nakagawa, S., Fukushima, S., Kontani, K., & Katada, T. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.172445 · Cited by 59

Microglia 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

Signal-peptide-peptidase-like 2a (SPPL2a) is targeted to lysosomes/late endosomes by a tyrosine motif in its C-terminal tail

Behnke, J., Schneppenheim, J., Koch‐Nolte, F., Haag, F., Säftig, P., & Schröder, B. (2011) · FEBS Letters · doi:10.1016/j.febslet.2011.08.043 · Cited by 52

Super-Resolution Correlative Light and Electron Microscopy (SR-CLEM) Reveals Novel Ultrastructural Insights Into Dendritic Cell Podosomes

Joosten, B., Willemse, M. P., Fransen, J. A. M., Cambi, A., & van den Dries, K. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.01908 · Cited by 50

Blood–brain barrier transcytosis genes, risk of dementia and stroke: a prospective cohort study of 74,754 individuals

Rasmussen, I. J., Tybjærg‐Hansen, A., Rasmussen, K. L., Nordestgaard, B. G., & Frikke‐Schmidt, R. (2019) · European Journal of Epidemiology · doi:10.1007/s10654-019-00498-2 · Cited by 46

Peripheral complement interactions with amyloid β peptide in Alzheimer's disease: Polymorphisms, structure, and function of complement receptor 1

Johansson, J. U., Brubaker, W. D., Javitz, H. S., Bergen, A. W., Nishita, D., Trigunaite, A., Crane, A., Ceballos, J., Mastroeni, D., Tenner, A. J., et al. (2018) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2018.04.003 · Cited by 43

Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's β-amyloid precursor protein

Tanahashi, H., & Tabira, T. (1999) · Neuroscience Letters · doi:10.1016/s0304-3940(98)00995-1 · Cited by 39

P1‐250: Genome‐Wide Association Study of Late‐Onset Alzheimer Disease Identifies Disease‐Associated Variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1

Naj, A. C., Jun, G., Buros, J. L., Gallins, P. J., Farrer, L. A., Haines, J. L., Pericak‐Vance, M. A., & Schellenberg, G. D. (2011) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2011.05.530 · Cited by 36

Processing of CD74 by the Intramembrane Protease SPPL2a Is Critical for B Cell Receptor Signaling in Transitional B Cells

Hüttl, S., Kläsener, K., Schweizer, M., Schneppenheim, J., Oberg, H., Kabelitz, D., Reth, M. G., Säftig, P., & Schröder, B. (2015) · The Journal of Immunology · doi:10.4049/jimmunol.1403171 · Cited by 35

CD2-Associated Protein Regulates Plasmacytoid Dendritic Cell Migration, but Is Dispensable for Their Development and Cytokine Production

Srivatsan, S., Swiecki, M. K., Otero, K., Cella, M., & Shaw, A. S. (2013) · The Journal of Immunology · doi:10.4049/jimmunol.1300454 · Cited by 32

Structural and Functional Characterization of Cargo-Binding Sites on the μ4-Subunit of Adaptor Protein Complex 4

Ross, B. H., Lin, Y., Corales, E. A., Burgos, P. V., & Mardones, G. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0088147 · Cited by 32

Cell-autonomous and non-cell autonomous effects of neuronal BIN1 loss in vivo

McAvoy, K. M., Sait, H. R., Marsh, G., Peterson, M. A., Reynolds, T. L., Gagnon, J., Geisler, S. B., Leach, P. T., Roberts, C., Cahir-McFarland, E. D., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0220125 · Cited by 29

Cholesterol and matrisome pathways dysregulated in human APOE ε4 gliaPreprint

Julia, T. C. W., Liang, S., Lü, Q., Pipalia, N. H., Chao, M. J., Shi, Y., Bertelsen, S. E., Kapoor, M., Marcora, E. M., Sikora, E., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/713362 · Cited by 29

Integration of Alzheimer’s disease genetics and myeloid genomics reveals novel disease risk mechanisms

Novikova, G., Kapoor, M., TCW, J., Abud, E. M., Efthymiou, A. G., Cheng, H., Fullard, J. F., Bendl, J., Roussos, P., Poon, W. W., et al. (2019) · doi:10.1101/694281 · Cited by 27

Integration of Alzheimer’s disease genetics and myeloid genomics reveals novel disease risk mechanisms

Novikova, G., Marcora, E. M., Kapoor, M., Julia, T. C. W., Renton, A. E., Efthymiou, A. G., Abud, E. M., Bendl, J. M., Cheng, H. M., Fullard, J. F., et al. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.043897 · Cited by 27

Zyxin is a novel target for beta‐amyloid peptide: characterization of its role in Alzheimer's pathogenesis

Lanni, C., Necchi, D., Pinto, A., Buoso, E., Buizza, L., Memo, M., Uberti, D. L., Govoni, S. M., & Racchi, M. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12154 · Cited by 25

Microglia – mediated immunity partly contributes to the genetic association between Alzheimer’s disease and hippocampal volume

Lancaster, T. M., Hill, M., Sims, R., & Williams, J. H. (2019) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2019.02.011 · Cited by 24

Zyxin (ZYX) promotes invasion and acts as a biomarker for aggressive phenotypes of human glioblastoma multiforme

Wen, X., Luo, T., Jiang, Y., Wang, L., Luo, Y., Chen, Q., Yang, K., Yuan, Y., Luo, C., Zhang, X., et al. (2020) · Laboratory Investigation · doi:10.1038/s41374-019-0368-9 · Cited by 23

SorLA modulates atheroprotective properties of CLA by regulating monocyte migration

McCarthy, C., Gaora, P. Ó., James, W. G., McClelland, S., Fitzgerald, D. J., Belton, O., & de Gaetano, M. (2010) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2010.09.025 · Cited by 17

Microbiota–gut–brain axis and its therapeutic applications in neurodegenerative diseases

Loh, J. S., Mak, W. Q., Tan, L. K. S., Ng, C. X., Chan, H. H., Yeow, S. H., Foo, J. B., Ong, Y. S., How, C. W., & Khaw, K. Y. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01743-1 · Cited by 1,193

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

Bryois, J., Calini, D., Macnair, W., Foo, L., Urich, E., Ortmann, W., Iglesias, V. A., Selvaraj, S., Nutma, E., Marzin, M., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01128-z · Cited by 311

Microglial phagocytosis of neurons in neurodegeneration, and its regulation

Butler, C. A., Popescu, A. S., Kitchener, E. J. A., Allendorf, D. H., Puigdellívol, M., & Brown, G. C. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15327 · Cited by 295

Perivascular cells induce microglial phagocytic states and synaptic engulfment via SPP1 in mouse models of Alzheimer’s disease

De Schepper, S., Ge, J. Z., Sierksma, A., Crowley, G., Ferreira, L. S. S., Garceau, D., Toomey, C. E., Sokolova, D., Rueda-Carrasco, J., Shin, S.-H., et al. (2023) · Nature Neuroscience · doi:10.1038/s41593-023-01257-z · Cited by 295

The role of innate immune genes in Alzheimer's disease

Griciuc, A., & Tanzi, R. E. (2021) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000911 · Cited by 192

Microglial efferocytosis: Diving into the Alzheimer’s disease gene pool

Romero-Molina, C., Garretti, F., Andrews, S. J., Marcora, E., & Goate, A. M. (2022) · Neuron · doi:10.1016/j.neuron.2022.10.015 · Cited by 111

Integration of Alzheimer’s disease genetics and myeloid genomics reveals novel disease risk mechanisms

Novikova, G., Marcora, E. M., Kapoor, M., Julia, T. C. W., Renton, A. E., Efthymiou, A. G., Abud, E. M., Bendl, J. M., Cheng, H. M., Fullard, J. F., et al. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.043897 · Cited by 27

Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes

Novikova, G., Kapoor, M., TCW, J., Abud, E. M., Efthymiou, A. G., Chen, S. X., Cheng, H., Fullard, J. F., Bendl, J., Liu, Y., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21823-y · Cited by 214

Genetic studies of Alzheimer's disease risk implicate clearance of lipid rich debris in myeloid cells

Novikova, G., Julia, T. C. W., Marcora, E. M., Kapoor, M., Renton, A. E., Efthymiou, A. G., Abud, E. M., Bendl, J. M., Cheng, H. M., Fullard, J. F., et al. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.040601

Genetic regulation of microglial function in Alzheimer’s disease: Mechanisms and therapeutic implications

Wijesinha, D. (2026) · Sri Lanka Journal of Neurology · doi:10.4038/sljon.v12i2.211