Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology

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Neuroimmune contributions to Alzheimer’s disease: a focus on human data

Haage, V., & De Jager, P. L. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01637-0 · Cited by 74 · see citing works

When Alzheimer's is LATE : Why Does it Matter?

Nelson, P. T., Schneider, J. A., Jicha, G. A., Duong, M. T., & Wolk, D. A. (2023) · Annals of Neurology · doi:10.1002/ana.26711 · Cited by 67 · see citing works

Limbic-predominant age-related TDP-43 encephalopathy (LATE-NC): Co-pathologies and genetic risk factors provide clues about pathogenesis

Nelson, P. T., Fardo, D. W., Wu, X., Aung, K. Z., Cykowski, M. D., & Katsumata, Y. (2024) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlae032 · Cited by 52 · see citing works

Microglia in Alzheimer's Disease: a Key Player in the Transition Between Homeostasis and Pathogenesis

McFarland, K. N., & Chakrabarty, P. (2022) · Neurotherapeutics · doi:10.1007/s13311-021-01179-3 · Cited by 48 · see citing works

Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities

Katsumata, Y., Shade, L. M. P., Hohman, T. J., Schneider, J. A., Bennett, D. A., Farfel, J. M., Kukull, W. A., Fardo, D. W., & Nelson, P. T. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105880 · Cited by 44 · see citing works

TMEM106B aggregation in neurodegenerative diseases: linking genetics to function

Jiao, H.-S., Yuan, P., & Yu, J.-T. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00644-1 · Cited by 46 · see citing works

Bulk and Single-Nucleus Transcriptomics Highlight Intra-Telencephalic and Somatostatin Neurons in Alzheimer’s Disease

Consens, M. E., Chen, Y., Menon, V., Wang, Y., Schneider, J. A., De Jager, P. L., Bennett, D. A., Tripathy, S. J., & Felsky, D. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.903175 · Cited by 44 · see citing works

The microglial lysosomal system in Alzheimer’s disease: Guardian against proteinopathy

Acker, Z. P. V., Perdok, A., Bretou, M., & Annaert, W. G. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101444 · Cited by 45 · see citing works

Aged Tmem106b knockout mice display gait deficits in coincidence with Purkinje cell loss and only limited signs of non‐motor dysfunction

Stroobants, S., D’Hooge, R., & Daμμe, M. (2020) · Brain Pathology · doi:10.1111/bpa.12903 · Cited by 30 · see citing works

Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease

Castaldi, P. J., Abood, A., Farber, C. R., & Sheynkman, G. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac196 · Cited by 30 · see citing works

miR-129-5p as a biomarker for pathology and cognitive decline in Alzheimer’s disease

Han, S., Pyun, J., Bice, P. J., Bennett, D. A., Saykin, A. J., Kim, S., Park, Y. H., & Nho, K. T. (2024) · Alzheimer s Research & Therapy · doi:10.1186/s13195-023-01366-8 · Cited by 33 · see citing works

Limbic-Predominant Age-Related TDP-43 Encephalopathy: LATE-Breaking Updates in Clinicopathologic Features and Biomarkers

Duong, M. T., & Wolk, D. A. (2022) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-022-01232-4 · Cited by 29 · see citing works

Diminished Rbfox1 increases vascular constriction by dynamically regulating alternative splicing of CaV1.2 calcium channel in hypertension

Song, M., Hou, W., Mustafa, A. U., Li, P., Lei, J., Zhou, Y., Li, J., Sun, Y., Zhou, H., Xu, Y., et al. (2022) · Clinical Science · doi:10.1042/cs20220226 · Cited by 17 · see citing works

Considerations for integrative multi‐omic approaches to explore Alzheimer's disease mechanisms

Ma, Y., Klein, H., & Jager, P. L. D. (2020) · Brain Pathology · doi:10.1111/bpa.12878 · Cited by 15 · see citing works

Conserved cell-type specific signature of resilience to Alzheimer’s disease nominates role for excitatory intratelencephalic cortical neuronsPreprint

Telpoukhovskaia, M. A., Hadad, N., Gurdon, B., Dai, Y., Ouellette, A. R., Neuner, S. M., Dunn, A. R., Willcox, J. A. L., Wu, Y., Dumitrescu, L. C., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.04.12.487877 · Cited by 14 · see citing works

Multi-cohort cerebrospinal fluid proteomics identifies robust molecular signatures for asymptomatic and symptomatic Alzheimer’s disease.Preprint

Cruchaga, C., Ali, M., Shen, Y., Do, A. N., Wang, L., Western, D., Liu, M., Beric, A., Budde, J., Gentsch, J., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3631708/v1 · Cited by 13 · see citing works

Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B

Godrich, D., Pasteris, J., Martin, E. R., Kunkle, B. W., Naj, A. C., Hamilton, K., Wang, H., Lee, W., Dumitrescu, L. C., Hohman, T. J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70760 · Cited by 9 · see citing works

Excitatory Neurons Derived from Human-Induced Pluripotent Stem Cells Show Transcriptomic Differences in Alzheimer’s Patients from Controls

Sagar, R., Azoidis, I., Zivko, C., Xydia, A., Oh, E. S., Rosenberg, P. B., Lyketsos, C. G., Mahairaki, V., & Avramopoulos, D. (2023) · Cells · doi:10.3390/cells12151990 · Cited by 9 · see citing works

Physiological and pathological functions of TMEM106B in neurodegenerative diseases

Zhu, M., Zhang, G., Meng, L., Xiao, T., Fang, X., & Zhang, Z. (2024) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-024-05241-z · Cited by 8 · see citing works

Integration with systems biology approaches and -omics data to characterize risk variation

Young, H. E., Cote, A. C., & Huckins, L. M. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-819602-1.00017-6 · Cited by 9 · see citing works

TMEM106B reduction does not rescue GRN deficiency in iPSC-derived human microglia and mouse models

Domínguez, S. L., Laufer, B. I., Ghosh, A. S., Li, Q., Ruggeri, G., Emani, M., Phu, L., Friedman, B. A., Sandoval, W. N., Rose, C. M., et al. (2023) · iScience · doi:10.1016/j.isci.2023.108362 · Cited by 7 · see citing works

An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegenerationPreprint

Salazar, A., Tesi, N., Knoop, L., Pijnenburg, Y. A. L., van der Lee, S. J., Wijesekera, S., Křížová, J., Hiltunen, M. O., Daμμe, M., Petrucelli, L., et al. (2023) · medRxiv · doi:10.1101/2023.07.16.23292721 · Cited by 7 · see citing works

Epigenetic noise in the aging brain: tuning neuronal vulnerability to neurodegeneration

Yin, X., Zhang, H., Zhang, R., Xue, J., & Hou, Y. (2026) · Trends in Neurosciences · doi:10.1016/j.tins.2026.04.006 · Cited by 3 · see citing works

Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulationPreprint

Replogle, J. M., Marks, J. D., Fernandez, M. G., Yuan, H., Yu, D., Winters, E., Jawahar, V. M., Deshmukh, R., Sutanto, R., Kowal, I., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.26.714634 · Cited by 6 · see citing works

Characterizing Individuals Fulfilling Clinical Criteria for Limbic-Predominant Age-Related TDP-43 Encephalopathy in a Tertiary Memory Clinic

Groot, C., Calandri, I. L., Bader, I., Bocancea, D. I., de Bruin, H., Carrigan, M., Collij, L. E., Duits, F. H., Kamps, S., de Koning, L. A., et al. (2026) · Neurology · doi:10.1212/wnl.0000000000214810 · Cited by 2 · see citing works

Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in CD46 and other loci

Grodstein, F., Lemos, B., Yang, J., Lopes, K. D. P., Vialle, R. A., Seyfried, N. T., Wang, Y., Shireby, G. L., Hannon, E. J., Thomas, A. J., et al. (2024) · Epigenetics · doi:10.1080/15592294.2024.2392050 · Cited by 2 · see citing works

Association of TMEM106B with Cortical APOE Gene Expression in Neurodegenerative Conditions

Picard, C., Miron, J., & Poirier, J. (2024) · Genes · doi:10.3390/genes15040416 · Cited by 2 · see citing works

Genetic variation in TMEM106B alters microglial activation and cytokine responses in chronic traumatic encephalopathy

Hartman, S., Aytan, N., Nicks, R., Hawkins, S., Cherry, J. D., Alvarez, V. E., Meng, G., Tripodis, Y., Martin, B. M., Palmisano, J. N., et al. (2025) · Acta Neuropathologica · doi:10.1007/s00401-025-02955-7 · Cited by 1 · see citing works

Case Study 6: The Diagnostic Challenge of a 75-Year-Old Man Who Had, Then Didn’t Have, Then Did Have Alzheimer’s Disease

Ramírez-Salazar, S. A., MacRae, C., Feany, M. Β., Miller, M. B., Yang, H., Meadows, M., McGinnis, S. M., Silbersweig, D., Gale, S. A., & Daffner, K. R. (2023) · Journal of Neuropsychiatry · doi:10.1176/appi.neuropsych.20230097 · Cited by 1 · see citing works

Critical reasoning on the co-expression module QTL in the dorsolateral prefrontal cortex

Cote, A. C., Young, H. E., & Huckins, L. M. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100311 · Cited by 1 · see citing works

UT's Project Quest Reaches Deep into Instruction and Research

Danielson, W. A. (1988) · T.H.E. Journal Technological Horizons in Education

Genetic Predisposition to Hand Grip Weakness Predicts Cognitive DeclinePreprint

Bercovitch, R., Tio, E. S., Wickramatunga, R., Misztal, M. C., Gicas, K. M., Jager, P. L. D., Schneider, J. A., Buchman, A. S., Bennett, D., Rajji, T. K., et al. (2025) · SSRN Electronic Journal · doi:10.2139/ssrn.5318321

Characterizing individuals fulfilling clinical criteria for LATE in a tertiary memory clinicPreprint

Groot, C., Calandri, I. L., Bader, I., Bocancea, D. I., de Bruin, H., Carrigan, M., Collij, L. E., Duits, F., Kamps, S., de Koning, L. A., et al. (2025) · medRxiv · doi:10.1101/2025.10.22.25338577

Additional file 1 of miR-129-5p as a biomarker for pathology and cognitive decline in Alzheimer’s disease

Han, S.-W., Pyun, J.-M., Bice, P. J., Bennett, D. A., Saykin, A. J., Kim, S. Y., Park, Y. H., & Nho, K. T. (2024) · Figshare · doi:10.6084/m9.figshare.24971307

Additional file 2 of miR-129-5p as a biomarker for pathology and cognitive decline in Alzheimer’s disease

Han, S.-W., Pyun, J.-M., Bice, P. J., Bennett, D. A., Saykin, A. J., Kim, S. Y., Park, Y. H., & Nho, K. (2024) · Figshare · doi:10.6084/m9.figshare.24971631

Vascular burden attenuates the TDP-43-TMEM106B pathological relationship in neurodegenerative disease with and without Alzheimer disease neuropathological change

Dopler, M. B., Corbett, W. C., Gonzalez, A. D., Ghaseminejad‐Bandpey, A., Keating, M., Clarke, K. M., Ogunbona, O. B., Maestre, G., Seshadri, S. S., Etemadmoghadam, S., et al. (2026) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlag031

GRN rs5848 variant associates with TDP-43 pathology and cancer in opposite directions

Aung, K. Z., Nelson, P. T., Ning, X., Wu, X., Tsuchiya, I., Karanth, S. D., Abner, E. L., Fardo, D. W., & Katsumata, Y. (2026) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlag051

From biology to therapy: advances in progranulin-related neurodegenerative diseases

Hu, S., Qiu, K., Zhen, F., & Zhou, X. (2026) · Molecular Neurodegeneration Advances · doi:10.1186/s44477-026-00042-z

A review of Limbic-predominant age-related TDP-43 encephalopathy (LATE)

Grese, Z. R., Tunç, A. E. B., & Grossberg, G. T. (2026) · Discover Neuroscience · doi:10.1186/s13064-026-00312-2

TMEM106B is a selective modulator of TDP‐43 pathology in Alzheimer's disease

Reeves, M. M., Calliari, A., Todd, T. W., Cidfuentes, C. M., Jansen‐West, K. R., Yue, M., Song, Y., Dunmore, J. A., Rawlinson, B. D., Engelberg-Cook, E., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71713

The splicing axis of aging: mechanisms and therapeutic opportunities

Raza, S., Kumari, A., & Cieśla, M. (2026) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2026.09.001

The TMEM106B locus and TDP-43 pathology in older persons without FTLD

Yu, L., Jager, P. L. D., Yang, J., Trojanowski, J. Q., Bennett, D. A., & Schneider, J. A. (2015) · Neurology · doi:10.1212/wnl.0000000000001313 · Cited by 91 · see citing works

TMEM106B haplotypes have distinct gene expression patterns in aged brain

Ren, Y., van Blitterswijk, M., Allen, M., Carrasquillo, M. M., Reddy, J. S., Wang, X., Beach, T. G., Dickson, D. W., Ertekin‐Taner, N., Asmann, Y. W., et al. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0268-2 · Cited by 47 · see citing works

TMEM106B haplotypes show distinct associations with tau and TDP-43 pathologies in the aging brainPreprint

Salazar, A., Tesi, N., van der Lee, S. J., Koopmans, F., Li, K. W., Rohde, S. K., Luimes, M. C., Rozemüller, A. J. M., SMIT, A. B., Hulsman, M., et al. (2026) · medRxiv · doi:10.64898/2026.08.11.26359568

P3‐136: MODULE QUANTITATIVE TRAIT LOCI ANALYSIS IMPLICATES TMEM106B AND RBFOX1 AS KEY BRAIN TRANSCRIPTOME REGULATORS IN OLDER ADULTS

Yang, H., White, C. C., Klein, H., Gaiteri, C., Mostafavi, S., Felsky, D., Yu, L., Sperling, R. A., Schneider, J. A., Bennett, D. A., et al. (2018) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2018.06.1493

Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B

Godrich, D., Pasteris, J., Martin, E. R., Kunkle, B. W., Naj, A. C., Hamilton, K., Wang, H., Lee, W., Dumitrescu, L. C., Hohman, T. J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70760 · Cited by 9 · see citing works