{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T13:32:53Z","timestamp":1783517573463,"version":"3.55.0"},"reference-count":101,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,8,9]],"date-time":"2025-08-09T00:00:00Z","timestamp":1754697600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,8,9]],"date-time":"2025-08-09T00:00:00Z","timestamp":1754697600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35NS132179"],"award-info":[{"award-number":["R35NS132179"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["HT94252310136"],"award-info":[{"award-number":["HT94252310136"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"DOI":"10.1186\/s40478-025-02087-9","type":"journal-article","created":{"date-parts":[[2025,8,9]],"date-time":"2025-08-09T07:34:55Z","timestamp":1754724895000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Divergent and convergent TMEM106B pathology in murine models of neurodegeneration and human disease"],"prefix":"10.1186","volume":"13","author":[{"given":"Muzi","family":"Du","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suleyman C.","family":"Akerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte M.","family":"Fare","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linhao","family":"Ruan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Vidensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyudmila","family":"Mamedova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey D.","family":"Rothstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,8,9]]},"reference":[{"key":"2087_CR1","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/j.biopsych.2014.03.006","volume":"76","author":"HH Adams","year":"2014","unstructured":"Adams HH, Verhaaren BF, Vrooman HA, Uitterlinden AG, Hofman A, van Duijn CM, van der Lugt A, Niessen WJ, Vernooij MW, Ikram MA (2014) TMEM106B influences volume of left-sided Temporal lobe and interhemispheric structures in the general population. Biol Psychiatry 76:503\u2013508. https:\/\/doi.org\/10.1016\/j.biopsych.2014.03.006","journal-title":"Biol Psychiatry"},{"key":"2087_CR2","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1016\/j.bbrc.2006.10.093","volume":"351","author":"T Arai","year":"2006","unstructured":"Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T (2006) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal Lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351:602\u2013611. https:\/\/doi.org\/10.1016\/j.bbrc.2006.10.093","journal-title":"Biochem Biophys Res Commun"},{"key":"2087_CR3","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1186\/s40478-024-01813-z","volume":"12","author":"M Bacioglu","year":"2024","unstructured":"Bacioglu M, Schweighauser M, Gray D, Lovestam S, Katsinelos T, Quaegebeur A, van Swieten J, Jaunmuktane Z, Davies SW, Scheres SHW, Goedert M, Ghetti B, Spillantini MG (2024) Cleaved TMEM106B forms amyloid aggregates in central and peripheral nervous systems. Acta Neuropathol Commun 12:99. https:\/\/doi.org\/10.1186\/s40478-024-01813-z","journal-title":"Acta Neuropathol Commun"},{"key":"2087_CR4","doi-asserted-by":"publisher","first-page":"1061559","DOI":"10.3389\/fncel.2022.1061559","volume":"16","author":"CS Bauer","year":"2022","unstructured":"Bauer CS, Webster CP, Shaw AC, Kok JR, Castelli LM, Lin YH, Smith EF, Illanes-Alvarez F, Higginbottom A, Shaw PJ, Azzouz M, Ferraiuolo L, Hautbergue GM, Grierson AJ, De Vos KJ (2022) Loss of TMEM106B exacerbates C9ALS\/FTD DPR pathology by disrupting autophagosome maturation. Front Cell Neurosci 16:1061559. https:\/\/doi.org\/10.3389\/fncel.2022.1061559","journal-title":"Front Cell Neurosci"},{"key":"2087_CR5","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.jocn.2015.10.008","volume":"26","author":"F Benninger","year":"2016","unstructured":"Benninger F, Glat MJ, Offen D, Steiner I (2016) Glial fibrillary acidic protein as a marker of astrocytic activation in the cerebrospinal fluid of patients with amyotrophic lateral sclerosis. J Clin Neurosci 26:75\u201378. https:\/\/doi.org\/10.1016\/j.jocn.2015.10.008","journal-title":"J Clin Neurosci"},{"key":"2087_CR6","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/BF00308809","volume":"82","author":"H Braak","year":"1991","unstructured":"Braak H, Braak E (1991) Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 82:239\u2013259","journal-title":"Acta Neuropathol"},{"key":"2087_CR7","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1093\/hmg\/dds475","volume":"22","author":"OA Brady","year":"2013","unstructured":"Brady OA, Zheng Y, Murphy K, Huang M, Hu F (2013) The frontotemporal Lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function. Hum Mol Genet 22:685\u2013695. https:\/\/doi.org\/10.1093\/hmg\/dds475","journal-title":"Hum Mol Genet"},{"key":"2087_CR8","doi-asserted-by":"publisher","first-page":"19670","DOI":"10.1074\/jbc.M113.515700","volume":"289","author":"OA Brady","year":"2014","unstructured":"Brady OA, Zhou X, Hu F (2014) Regulated intramembrane proteolysis of the frontotemporal Lobar degeneration risk factor, TMEM106B, by signal peptide peptidase-like 2a (SPPL2a). J Biol Chem 289:19670\u201319680. https:\/\/doi.org\/10.1074\/jbc.M113.515700","journal-title":"J Biol Chem"},{"key":"2087_CR9","doi-asserted-by":"publisher","first-page":"5269","DOI":"10.1007\/s12035-017-0755-4","volume":"55","author":"AA Brasil","year":"2018","unstructured":"Brasil AA, Magalhaes RSS, De Carvalho MDC, Paiva I, Gerhardt E, Pereira MD, Outeiro TF, Eleutherio ECA (2018) Implications of fALS mutations on Sod1 function and oligomerization in cell models. Mol Neurobiol 55:5269\u20135281. https:\/\/doi.org\/10.1007\/s12035-017-0755-4","journal-title":"Mol Neurobiol"},{"key":"2087_CR10","doi-asserted-by":"publisher","first-page":"1062","DOI":"10.1038\/s41586-023-06726-w","volume":"623","author":"C Bussi","year":"2023","unstructured":"Bussi C, Mangiarotti A, Vanhille-Campos C, Aylan B, Pellegrino E, Athanasiadi N, Fearns A, Rodgers A, Franzmann TM, Saric A, Dimova R, Gutierrez MG (2023) Stress granules plug and stabilize damaged endolysosomal membranes. Nature 623:1062\u20131069. https:\/\/doi.org\/10.1038\/s41586-023-06726-w","journal-title":"Nature"},{"key":"2087_CR11","doi-asserted-by":"publisher","unstructured":"Cairns NJ, Neumann M, Bigio EH, Holm IE, Troost D, Hatanpaa KJ, Foong C, White CL 3rd, Schneider JA, Kretzschmar HA, Carter D, Taylor-Reinwald L, Paulsmeyer K, Strider J, Gitcho M, Goate AM, Morris JC, Mishra M, Kwong LK, Mackenzie IR (2007) TDP-43 in Familial and sporadic frontotemporal Lobar degeneration with ubiquitin inclusions. Am J Pathol 171:227\u2013240. https:\/\/doi.org\/10.2353\/ajpath.2007.070182","DOI":"10.2353\/ajpath.2007.070182"},{"key":"2087_CR12","doi-asserted-by":"publisher","first-page":"888420","DOI":"10.3389\/fnmol.2022.888420","volume":"15","author":"RF Candia","year":"2022","unstructured":"Candia RF, Cohen LS, Morozova V, Corbo C, Alonso AD (2022) Importin-Mediated pathological Tau nuclear translocation causes disruption of the nuclear lamina, TDP-43 mislocalization and cell death. Front Mol Neurosci 15:888420. https:\/\/doi.org\/10.3389\/fnmol.2022.888420","journal-title":"Front Mol Neurosci"},{"key":"2087_CR13","doi-asserted-by":"publisher","first-page":"1346","DOI":"10.1016\/j.cell.2022.02.026","volume":"185","author":"A Chang","year":"2022","unstructured":"Chang A, Xiang X, Wang J, Lee C, Arakhamia T, Simjanoska M, Wang C, Carlomagno Y, Zhang G, Dhingra S, Thierry M, Perneel J, Heeman B, Forgrave LM, DeTure M, DeMarco ML, Cook CN, Rademakers R, Dickson DW, Fitzpatrick AWP (2022) Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases. Cell 185:1346\u20131355e1315. https:\/\/doi.org\/10.1016\/j.cell.2022.02.026","journal-title":"Cell"},{"key":"2087_CR14","doi-asserted-by":"publisher","first-page":"11213","DOI":"10.1523\/JNEUROSCI.0521-12.2012","volume":"32","author":"AS Chen-Plotkin","year":"2012","unstructured":"Chen-Plotkin AS, Unger TL, Gallagher MD, Bill E, Kwong LK, Volpicelli-Daley L, Busch JI, Akle S, Grossman M, Van Deerlin V, Trojanowski JQ, Lee VM (2012) TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132\/212 cluster and affects progranulin pathways. J Neurosci 32:11213\u201311227. https:\/\/doi.org\/10.1523\/JNEUROSCI.0521-12.2012","journal-title":"J Neurosci"},{"key":"2087_CR15","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1126\/science.aaa9344","volume":"348","author":"J Chew","year":"2015","unstructured":"Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang Y-J, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Petrucelli L (2015) Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Sci (New York NY) 348:1151\u20131154. https:\/\/doi.org\/10.1126\/science.aaa9344","journal-title":"Sci (New York NY)"},{"key":"2087_CR16","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s13024-019-0310-z","volume":"14","author":"J Chew","year":"2019","unstructured":"Chew J, Cook C, Gendron TF, Jansen-West K, Del Rosso G, Daughrity LM, Castanedes-Casey M, Kurti A, Stankowski JN, Disney MD, Rothstein JD, Dickson DW, Fryer JD, Zhang YJ, Petrucelli L (2019) Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy. Mol Neurodegener 14:9. https:\/\/doi.org\/10.1186\/s13024-019-0310-z","journal-title":"Mol Neurodegener"},{"key":"2087_CR17","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1038\/s41593-018-0236-8","volume":"21","author":"TM Dawson","year":"2018","unstructured":"Dawson TM, Golde TE, Lagier-Tourenne C (2018) Animal models of neurodegenerative diseases. Nat Neurosci 21:1370\u20131379. https:\/\/doi.org\/10.1038\/s41593-018-0236-8","journal-title":"Nat Neurosci"},{"key":"2087_CR18","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1007\/s00401-014-1249-3","volume":"127","author":"Y Deming","year":"2014","unstructured":"Deming Y, Cruchaga C (2014) TMEM106B: a strong FTLD disease modifier. Acta Neuropathol 127:419\u2013422. https:\/\/doi.org\/10.1007\/s00401-014-1249-3","journal-title":"Acta Neuropathol"},{"key":"2087_CR19","doi-asserted-by":"publisher","first-page":"111106","DOI":"10.1016\/j.celrep.2022.111106","volume":"40","author":"L Duan","year":"2022","unstructured":"Duan L, Zaepfel BL, Aksenova V, Dasso M, Rothstein JD, Kalab P, Hayes LR (2022) Nuclear RNA binding regulates TDP-43 nuclear localization and passive nuclear export. Cell Rep 40:111106. https:\/\/doi.org\/10.1016\/j.celrep.2022.111106","journal-title":"Cell Rep"},{"key":"2087_CR20","doi-asserted-by":"publisher","DOI":"10.1101\/2023.03.23.533978","author":"GA Edwards","year":"2023","unstructured":"Edwards GA, Wood CA, Nguyen Q, Kim PJ, Gomez-Gutierrez R, Park KW, Zurhellen C, Al-Ramahi I, Jankowsky JL (2023) TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy. BioRxiv. https:\/\/doi.org\/10.1101\/2023.03.23.533978","journal-title":"BioRxiv"},{"key":"2087_CR21","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1038\/s41422-022-00665-3","volume":"32","author":"Y Fan","year":"2022","unstructured":"Fan Y, Zhao Q, Xia W, Tao Y, Yu W, Chen M, Liu Y, Zhao J, Shen Y, Sun Y, Si C, Zhang S, Zhang Y, Li W, Liu C, Wang J, Li D (2022) Generic amyloid fibrillation of TMEM106B in patient with parkinson\u2019s disease dementia and normal elders. Cell Res 32:585\u2013588. https:\/\/doi.org\/10.1038\/s41422-022-00665-3","journal-title":"Cell Res"},{"key":"2087_CR22","doi-asserted-by":"publisher","first-page":"e50219","DOI":"10.15252\/embr.202050219","volume":"21","author":"T Feng","year":"2020","unstructured":"Feng T, Mai S, Roscoe JM, Sheng RR, Ullah M, Zhang J, Katz II, Yu H, Xiong W, Hu F (2020) Loss of TMEM106B and PGRN leads to severe lysosomal abnormalities and neurodegeneration in mice. EMBO Rep 21:e50219. https:\/\/doi.org\/10.15252\/embr.202050219","journal-title":"EMBO Rep"},{"key":"2087_CR23","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s00401-020-02246-3","volume":"141","author":"T Feng","year":"2021","unstructured":"Feng T, Lacrampe A, Hu F (2021) Physiological and pathological functions of TMEM106B: a gene associated with brain aging and multiple brain disorders. Acta Neuropathol 141:327\u2013339. https:\/\/doi.org\/10.1007\/s00401-020-02246-3","journal-title":"Acta Neuropathol"},{"key":"2087_CR24","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/s00401-024-02702-4","volume":"147","author":"T Feng","year":"2024","unstructured":"Feng T, Du H, Yang C, Wang Y, Hu F (2024) Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice. Acta Neuropathol 147:62. https:\/\/doi.org\/10.1007\/s00401-024-02702-4","journal-title":"Acta Neuropathol"},{"key":"2087_CR25","doi-asserted-by":"publisher","first-page":"e11552","DOI":"10.1371\/journal.pone.0011552","volume":"5","author":"K Forsberg","year":"2010","unstructured":"Forsberg K, Jonsson PA, Andersen PM, Bergemalm D, Graffmo KS, Hultdin M, Jacobsson J, Rosquist R, Marklund SL, Br\u00e4nnstr\u00f6m T (2010) Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients. PLoS ONE 5:e11552. https:\/\/doi.org\/10.1371\/journal.pone.0011552","journal-title":"PLoS ONE"},{"key":"2087_CR26","doi-asserted-by":"publisher","unstructured":"Fujita M, Gao Z, Zeng L, McCabe C, White CC, Ng B, Green GS, Rozenblatt-Rosen O, Phillips D, Amir-Zilberstein L, Lee H, Pearse RV 2nd, Khan A, Vardarajan BN, Kiryluk K, Ye CJ, Klein HU, Wang G, Regev A, De Jager PL (2024) Cell subtype-specific effects of genetic variation in the alzheimer\u2019s disease brain. Nat Genet 56:605\u2013614. https:\/\/doi.org\/10.1038\/s41588-024-01685-y","DOI":"10.1038\/s41588-024-01685-y"},{"key":"2087_CR27","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1007\/s00401-013-1239-x","volume":"127","author":"MD Gallagher","year":"2014","unstructured":"Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ, Frosch MP, Alafuzoff I, Antonell A, Bogdanovic N, Chen-Plotkin AS (2014) TMEM106B is a genetic modifier of frontotemporal Lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol 127:407\u2013418. https:\/\/doi.org\/10.1007\/s00401-013-1239-x","journal-title":"Acta Neuropathol"},{"key":"2087_CR28","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.ajhg.2017.09.004","volume":"101","author":"MD Gallagher","year":"2017","unstructured":"Gallagher MD, Posavi M, Huang P, Unger TL, Berlyand Y, Gruenewald AL, Chesi A, Manduchi E, Wells AD, Grant SFA, Blobel GA, Brown CD, Chen-Plotkin AS (2017) A Dementia-Associated risk variant near TMEM106B alters chromatin architecture and gene expression. Am J Hum Genet 101:643\u2013663. https:\/\/doi.org\/10.1016\/j.ajhg.2017.09.004","journal-title":"Am J Hum Genet"},{"key":"2087_CR29","doi-asserted-by":"publisher","unstructured":"Gijselinck I, Cruts M, Van Broeckhoven C (2018) The genetics of C9orf72 expansions. Cold Spring Harb Perspect Med 8. https:\/\/doi.org\/10.1101\/cshperspect.a026757","DOI":"10.1101\/cshperspect.a026757"},{"key":"2087_CR30","doi-asserted-by":"publisher","first-page":"6724","DOI":"10.1038\/s41598-019-43164-z","volume":"9","author":"C Gill","year":"2019","unstructured":"Gill C, Phelan JP, Hatzipetros T, Kidd JD, Tassinari VR, Levine B, Wang MZ, Moreno A, Thompson K, Maier M, Grimm J, Gill A, Vieira FG (2019) SOD1-positive aggregate accumulation in the CNS predicts slower disease progression and increased longevity in a mutant SOD1 mouse model of ALS. Sci Rep 9:6724. https:\/\/doi.org\/10.1038\/s41598-019-43164-z","journal-title":"Sci Rep"},{"key":"2087_CR31","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1126\/science.8209258","volume":"264","author":"ME Gurney","year":"1994","unstructured":"Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, Caliendo J, Hentati A, Kwon YW, Deng HX (1994) Motor neuron degeneration in mice that express a human cu,zn superoxide dismutase mutation. Science 264:1772\u20131775. https:\/\/doi.org\/10.1126\/science.8209258","journal-title":"Science"},{"key":"2087_CR32","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1136\/jnnp-2017-315641","volume":"88","author":"SR Harding","year":"2017","unstructured":"Harding SR, Bocchetta M, Gordon E, Cash DM, Cardoso MJ, Druyeh R, Ourselin S, Warren JD, Mead S, Rohrer JD (2017) The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort. J Neurol Neurosurg Psychiatry 88:997\u2013998. https:\/\/doi.org\/10.1136\/jnnp-2017-315641","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2087_CR33","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1146\/annurev-biochem-061516-044518","volume":"86","author":"FU Hartl","year":"2017","unstructured":"Hartl FU (2017) Protein misfolding diseases. Annu Rev Biochem 86:21\u201326. https:\/\/doi.org\/10.1146\/annurev-biochem-061516-044518","journal-title":"Annu Rev Biochem"},{"key":"2087_CR34","doi-asserted-by":"publisher","first-page":"115107","DOI":"10.1016\/j.celrep.2024.115107","volume":"44","author":"S Held","year":"2025","unstructured":"Held S, Erck C, Kemppainen S, Bleibaum F, Giridhar NJ, Feederle R, Krenner C, Juopperi SP, Calliari A, Mentrup T, Schroder B, Dickson DW, Rauramaa T, Petrucelli L, Prudencio M, Hiltunen M, Luningschror P, Capell A, Damme M (2025) Physiological shedding and C-terminal proteolytic processing of TMEM106B. Cell Rep 44:115107. https:\/\/doi.org\/10.1016\/j.celrep.2024.115107","journal-title":"Cell Rep"},{"key":"2087_CR35","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/j.brainres.2007.09.048","volume":"1184","author":"S Higashi","year":"2007","unstructured":"Higashi S, Iseki E, Yamamoto R, Minegishi M, Hino H, Fujisawa K, Togo T, Katsuse O, Uchikado H, Furukawa Y, Kosaka K, Arai H (2007) Concurrence of TDP-43, Tau and alpha-synuclein pathology in brains of alzheimer\u2019s disease and dementia with lewy bodies. Brain Res 1184:284\u2013294. https:\/\/doi.org\/10.1016\/j.brainres.2007.09.048","journal-title":"Brain Res"},{"key":"2087_CR36","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1471-2202-4-16","volume":"4","author":"CM Higgins","year":"2003","unstructured":"Higgins CM, Jung C, Xu Z (2003) ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes. BMC Neurosci 4:16. https:\/\/doi.org\/10.1186\/1471-2202-4-16","journal-title":"BMC Neurosci"},{"key":"2087_CR37","doi-asserted-by":"publisher","first-page":"110937","DOI":"10.1016\/j.isci.2024.110937","volume":"27","author":"RE Hodgson","year":"2024","unstructured":"Hodgson RE, Rayment JA, Huang WP, Sanchez Avila A, Ellis BCS, Lin YH, Soni N, Hautbergue GM, Shelkovnikova TA (2024) C9orf72 poly-PR forms anisotropic condensates causative of nuclear TDP-43 pathology. iScience 27:110937. https:\/\/doi.org\/10.1016\/j.isci.2024.110937","journal-title":"iScience"},{"key":"2087_CR38","doi-asserted-by":"publisher","unstructured":"Hong S, Dobricic V, Ohlei O, Bos I, Vos SJB, Prokopenko D, Tijms BM, Andreasson U,Blennow K, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Alzheimer\u2019s Disease Neuroimaging I,\u2026 Bertram L (2021) TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer\u2019s disease biomarker levels. Alzheimers Dement 17:1628\u20131640. https:\/\/doi.org\/10.1002\/alz.12330","DOI":"10.1002\/alz.12330"},{"key":"2087_CR39","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/s12916-020-01883-5","volume":"19","author":"Y Hu","year":"2021","unstructured":"Hu Y, Sun JY, Zhang Y, Zhang H, Gao S, Wang T, Han Z, Wang L, Sun BL, Liu G (2021) rs1990622 variant associates with alzheimer\u2019s disease and regulates TMEM106B expression in human brain tissues. BMC Med 19:11. https:\/\/doi.org\/10.1186\/s12916-020-01883-5","journal-title":"BMC Med"},{"key":"2087_CR40","doi-asserted-by":"publisher","first-page":"2007","DOI":"10.1007\/s12035-018-1218-2","volume":"56","author":"GS Jeon","year":"2019","unstructured":"Jeon GS, Shim YM, Lee DY, Kim JS, Kang M, Ahn SH, Shin JY, Geum D, Hong YH, Sung JJ (2019) Pathological modification of TDP-43 in amyotrophic lateral sclerosis with SOD1 mutations. Mol Neurobiol 56:2007\u20132021. https:\/\/doi.org\/10.1007\/s12035-018-1218-2","journal-title":"Mol Neurobiol"},{"key":"2087_CR41","doi-asserted-by":"publisher","unstructured":"Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling S-C, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M,\u2026 Lagier-Tourenne C (2016) Gain of Toxicity from ALS\/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron 90:535\u2013550. https:\/\/doi.org\/10.1016\/j.neuron.2016.04.006","DOI":"10.1016\/j.neuron.2016.04.006"},{"key":"2087_CR42","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1038\/s41586-022-04670-9","volume":"605","author":"YX Jiang","year":"2022","unstructured":"Jiang YX, Cao Q, Sawaya MR, Abskharon R, Ge P, DeTure M, Dickson DW, Fu JY, Ogorzalek Loo RR, Loo JA, Eisenberg DS (2022) Amyloid fibrils in FTLD-TDP are composed of TMEM106B and not TDP-43. Nature 605:304\u2013309. https:\/\/doi.org\/10.1038\/s41586-022-04670-9","journal-title":"Nature"},{"key":"2087_CR43","doi-asserted-by":"publisher","first-page":"30524","DOI":"10.1074\/jbc.M603337200","volume":"281","author":"T Kabuta","year":"2006","unstructured":"Kabuta T, Suzuki Y, Wada K (2006) Degradation of amyotrophic lateral sclerosis-linked mutant Cu,Zn-superoxide dismutase proteins by macroautophagy and the proteasome. J Biol Chem 281:30524\u201330533. https:\/\/doi.org\/10.1074\/jbc.M603337200","journal-title":"J Biol Chem"},{"key":"2087_CR44","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1007\/s00401-010-0646-5","volume":"119","author":"A Kerman","year":"2010","unstructured":"Kerman A, Liu HN, Croul S, Bilbao J, Rogaeva E, Zinman L, Robertson J, Chakrabartty A (2010) Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the Familial form. Acta Neuropathol 119:335\u2013344. https:\/\/doi.org\/10.1007\/s00401-010-0646-5","journal-title":"Acta Neuropathol"},{"key":"2087_CR45","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.neuron.2017.06.026","volume":"95","author":"ZA Klein","year":"2017","unstructured":"Klein ZA, Takahashi H, Ma M, Stagi M, Zhou M, Lam TT, Strittmatter SM (2017) Loss of TMEM106B ameliorates lysosomal and frontotemporal Dementia-Related phenotypes in Progranulin-Deficient mice. Neuron 95:281\u2013296e286. https:\/\/doi.org\/10.1016\/j.neuron.2017.06.026","journal-title":"Neuron"},{"key":"2087_CR46","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1159\/000287952","volume":"7","author":"P Kokoulina","year":"2010","unstructured":"Kokoulina P, Rohn TT (2010) Caspase-cleaved transactivation response DNA-binding protein 43 in parkinson\u2019s disease and dementia with lewy bodies. Neurodegener Dis 7:243\u2013250. https:\/\/doi.org\/10.1159\/000287952","journal-title":"Neurodegener Dis"},{"key":"2087_CR47","doi-asserted-by":"publisher","unstructured":"Kon\u00ed\u010dkov\u00e1 D, Men\u0161\u00edkov\u00e1 K, Tu\u010dkov\u00e1 L, H\u00e9nykov\u00e1 E, Strnad M, Friedeck\u00fd D, Stejskal D, Mat\u011bj R, Ka\u0148ovsk\u00fd P (2022) Biomarkers of neurodegenerative diseases: biology, taxonomy, clinical relevance, and current research status. Biomedicines 10. https:\/\/doi.org\/10.3390\/biomedicines10071760","DOI":"10.3390\/biomedicines10071760"},{"key":"2087_CR48","doi-asserted-by":"publisher","first-page":"2731","DOI":"10.1038\/s41467-018-05013-x","volume":"9","author":"ST Kundu","year":"2018","unstructured":"Kundu ST, Grzeskowiak CL, Fradette JJ, Gibson LA, Rodriguez LB, Creighton CJ, Scott KL, Gibbons DL (2018) TMEM106B drives lung cancer metastasis by inducing TFEB-dependent lysosome synthesis and secretion of cathepsins. Nat Commun 9:2731. https:\/\/doi.org\/10.1038\/s41467-018-05013-x","journal-title":"Nat Commun"},{"key":"2087_CR49","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/s40478-019-0743-1","volume":"7","author":"CS Latimer","year":"2019","unstructured":"Latimer CS, Burke BT, Liachko NF, Currey HN, Kilgore MD, Gibbons LE, Henriksen J, Darvas M, Domoto-Reilly K, Jayadev S, Grabowski TJ, Crane PK, Larson EB, Kraemer BC, Bird TD, Keene CD (2019) Resistance and resilience to alzheimer\u2019s disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort. Acta Neuropathol Commun 7:91. https:\/\/doi.org\/10.1186\/s40478-019-0743-1","journal-title":"Acta Neuropathol Commun"},{"key":"2087_CR50","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1186\/s13024-023-00650-3","volume":"18","author":"JY Lee","year":"2023","unstructured":"Lee JY, Harney DJ, Teo JD, Kwok JB, Sutherland GT, Larance M, Don AS (2023) The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and Myelin lipid homeostasis in the ageing human hippocampus. Mol Neurodegener 18:63. https:\/\/doi.org\/10.1186\/s13024-023-00650-3","journal-title":"Mol Neurodegener"},{"key":"2087_CR51","doi-asserted-by":"publisher","unstructured":"Liao YC, Fernandopulle MS, Wang G, Choi H, Hao L, Drerup CM, Patel R, Qamar S, Nixon-Abell J, Shen Y, Meadows W, Vendruscolo M, Knowles TPJ, Nelson M, Czekalska MA, Musteikyte G, Gachechiladze MA, Stephens CA, Pasolli HA,\u2026 Ward ME (2019) RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether.Cell 179:147\u2013164 e120. https:\/\/doi.org\/10.1016\/j.cell.2019.08.050","DOI":"10.1016\/j.cell.2019.08.050"},{"key":"2087_CR52","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/j.neuron.2016.04.005","volume":"90","author":"Y Liu","year":"2016","unstructured":"Liu Y, Pattamatta A, Zu T, Reid T, Bardhi O, Borchelt DR, Yachnis AT, Ranum LPW (2016) C9orf72 BAC mouse model with motor deficits and neurodegenerative features of ALS\/FTD. Neuron 90:521\u2013534. https:\/\/doi.org\/10.1016\/j.neuron.2016.04.005","journal-title":"Neuron"},{"key":"2087_CR53","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-024-04373-4","author":"Y Liu","year":"2024","unstructured":"Liu Y, Qin K, Jiang C, Gao J, Hou B, Xie A (2024) TMEM106B knockdown exhibits a neuroprotective effect in parkinson\u2019s disease via decreasing inflammation and iron deposition. Mol Neurobiol. https:\/\/doi.org\/10.1007\/s12035-024-04373-4","journal-title":"Mol Neurobiol"},{"key":"2087_CR54","doi-asserted-by":"publisher","first-page":"3506","DOI":"10.1016\/j.celrep.2020.02.060","volume":"30","author":"P L\u00fcningschr\u00f6r","year":"2020","unstructured":"L\u00fcningschr\u00f6r P, Werner G, Stroobants S, Kakuta S, Dombert B, Sinske D, Wanner R, L\u00fcllmann-Rauch R, Wefers B, Wurst W, D\u2019Hooge R, Uchiyama Y, Sendtner M, Haass C, Saftig P, Kn\u00f6ll B, Capell A, Damme M (2020) The FTLD risk factor TMEM106B regulates the transport of lysosomes at the axon initial segment of motoneurons. Cell Rep 30:3506\u20133519e3506. https:\/\/doi.org\/10.1016\/j.celrep.2020.02.060","journal-title":"Cell Rep"},{"key":"2087_CR55","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1002\/ana.21147","volume":"61","author":"IR Mackenzie","year":"2007","unstructured":"Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ (2007) Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61:427\u2013434. https:\/\/doi.org\/10.1002\/ana.21147","journal-title":"Ann Neurol"},{"key":"2087_CR56","doi-asserted-by":"publisher","unstructured":"Manini A, Ratti A, Brusati A, Maranzano A, Fogh I, Peverelli S, Messina S, Gentilini D, Verde F, Poletti B, Morelli C, Silani V, Ticozzi N (2022) TMEM106B acts as a modifier of cognitive and motor functions in amyotrophic lateral sclerosis. Int J Mol Sci 23. https:\/\/doi.org\/10.3390\/ijms23169276","DOI":"10.3390\/ijms23169276"},{"key":"2087_CR57","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1007\/s00401-021-02330-2","volume":"142","author":"F Mao","year":"2021","unstructured":"Mao F, Robinson JL, Unger T, Posavi M, Amado DA, Elman L, Grossman M, Wolk DA, Lee EB, Van Deerlin VM, Porta S, Lee VMY, Trojanowski JQ, Chen-Plotkin AS (2021) TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy. Acta Neuropathol 142:629\u2013642. https:\/\/doi.org\/10.1007\/s00401-021-02330-2","journal-title":"Acta Neuropathol"},{"key":"2087_CR58","doi-asserted-by":"publisher","unstructured":"Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT,\u2026 Cook CN (2024) TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.Sci Transl Med 16:eadf9735. https:\/\/doi.org\/10.1126\/scitranslmed.adf9735","DOI":"10.1126\/scitranslmed.adf9735"},{"key":"2087_CR59","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1212\/wnl.41.4.479","volume":"41","author":"SS Mirra","year":"1991","unstructured":"Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, Vogel FS, Hughes JP, van Belle G, Berg L (1991) The consortium to Establish a registry for alzheimer\u2019s disease (CERAD). Part II. Standardization of the neuropathologic assessment of alzheimer\u2019s disease. Neurology 41:479\u2013486. https:\/\/doi.org\/10.1212\/wnl.41.4.479","journal-title":"Neurology"},{"key":"2087_CR60","doi-asserted-by":"publisher","first-page":"105130","DOI":"10.1016\/j.nbd.2020.105130","volume":"146","author":"M Montalbano","year":"2020","unstructured":"Montalbano M, McAllen S, Cascio FL, Sengupta U, Garcia S, Bhatt N, Ellsworth A, Heidelman EA, Johnson OD, Doskocil S, Kayed R (2020) TDP-43 and Tau oligomers in alzheimer\u2019s disease, amyotrophic lateral sclerosis, and frontotemporal dementia. Neurobiol Dis 146:105130. https:\/\/doi.org\/10.1016\/j.nbd.2020.105130","journal-title":"Neurobiol Dis"},{"key":"2087_CR61","doi-asserted-by":"publisher","unstructured":"Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD\/ALS. Science 339:1335\u20131338. https:\/\/doi.org\/10.1126\/science.1232927","DOI":"10.1126\/science.1232927"},{"key":"2087_CR62","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.brainres.2007.06.045","volume":"1167","author":"N Morimoto","year":"2007","unstructured":"Morimoto N, Nagai M, Ohta Y, Miyazaki K, Kurata T, Morimoto M, Murakami T, Takehisa Y, Ikeda Y, Kamiya T, Abe K (2007) Increased autophagy in Transgenic mice with a G93A mutant SOD1 gene. Brain Res 1167:112\u2013117. https:\/\/doi.org\/10.1016\/j.brainres.2007.06.045","journal-title":"Brain Res"},{"key":"2087_CR63","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1111\/nan.12430","volume":"44","author":"C Nascimento","year":"2018","unstructured":"Nascimento C, Di Lorenzo Alho AT, Bazan Conceicao Amaral C, Leite REP, Nitrini R, Jacob-Filho W, Pasqualucci CA, Hokkanen SRK, Hunter S, Keage H, Kovacs GG, Grinberg LT, Suemoto CK (2018) Prevalence of transactive response DNA-binding protein 43 (TDP-43) proteinopathy in cognitively normal older adults: systematic review and meta-analysis. Neuropathol Appl Neurobiol 44:286\u2013297. https:\/\/doi.org\/10.1111\/nan.12430","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2087_CR64","doi-asserted-by":"publisher","unstructured":"Nicholson AM, Zhou X, Perkerson RB, Parsons TM, Chew J, Brooks M, DeJesus-Hernandez M, Finch NA, Matchett BJ, Kurti A, Jansen-West KR, Perkerson E, Daughrity L, Castanedes-Casey M, Rousseau L, Phillips V, Hu F, Gendron TF, Murray ME,\u2026 Rademakers R (2018) Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity. Acta Neuropathol Commun 6:42. https:\/\/doi.org\/10.1186\/s40478-018-0545-x","DOI":"10.1186\/s40478-018-0545-x"},{"key":"2087_CR65","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1007\/s00401-016-1610-9","volume":"132","author":"AM Nicholson","year":"2016","unstructured":"Nicholson AM, Rademakers R (2016) What we know about TMEM106B in neurodegeneration. Acta Neuropathol 132:639\u2013651. https:\/\/doi.org\/10.1007\/s00401-016-1610-9","journal-title":"Acta Neuropathol"},{"key":"2087_CR66","doi-asserted-by":"publisher","first-page":"1993","DOI":"10.1212\/WNL.0b013e31823a0cfc","volume":"77","author":"Y Okamoto","year":"2011","unstructured":"Okamoto Y, Ihara M, Urushitani M, Yamashita H, Kondo T, Tanigaki A, Oono M, Kawamata J, Ikemoto A, Kawamoto Y, Takahashi R, Ito H (2011) An autopsy case of SOD1-related ALS with TDP-43 positive inclusions. Neurology 77:1993\u20131995. https:\/\/doi.org\/10.1212\/WNL.0b013e31823a0cfc","journal-title":"Neurology"},{"key":"2087_CR67","doi-asserted-by":"publisher","first-page":"14223","DOI":"10.1038\/s41598-018-31773-z","volume":"8","author":"B Par\u00e9","year":"2018","unstructured":"Par\u00e9 B, Lehmann M, Beaudin M, Nordstr\u00f6m U, Saikali S, Julien J-P, Gilthorpe JD, Marklund SL, Cashman NR, Andersen PM, Forsberg K, Dupr\u00e9 N, Gould P, Br\u00e4nnstr\u00f6m T, Gros-Louis F (2018) Misfolded SOD1 pathology in sporadic amyotrophic lateral sclerosis. Sci Rep 8:14223. https:\/\/doi.org\/10.1038\/s41598-018-31773-z","journal-title":"Sci Rep"},{"key":"2087_CR68","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/s00401-022-02531-3","volume":"145","author":"J Perneel","year":"2023","unstructured":"Perneel J, Neumann M, Heeman B, Cheung S, Van den Broeck M, Wynants S, Baker M, Vicente CT, Faura J, Rademakers R, Mackenzie IRA (2023) Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging. Acta Neuropathol 145:285\u2013302. https:\/\/doi.org\/10.1007\/s00401-022-02531-3","journal-title":"Acta Neuropathol"},{"key":"2087_CR69","doi-asserted-by":"publisher","first-page":"1160248","DOI":"10.3389\/fneur.2023.1160248","volume":"14","author":"J Perneel","year":"2023","unstructured":"Perneel J, Manoochehri M, Huey ED, Rademakers R, Goldman J (2023) Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family. Front Neurol 14:1160248. https:\/\/doi.org\/10.3389\/fneur.2023.1160248","journal-title":"Front Neurol"},{"key":"2087_CR70","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/s40478-016-0313-8","volume":"4","author":"S Pickles","year":"2016","unstructured":"Pickles S, Semmler S, Broom HR, Destroismaisons L, Legroux L, Arbour N, Meiering E, Cashman NR, Vande Velde C (2016) ALS-linked misfolded SOD1 species have divergent impacts on mitochondria. Acta Neuropathol Commun 4:43. https:\/\/doi.org\/10.1186\/s40478-016-0313-8","journal-title":"Acta Neuropathol Commun"},{"key":"2087_CR71","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1038\/nm1559","volume":"13","author":"R Rakhit","year":"2007","unstructured":"Rakhit R, Robertson J, Vande Velde C, Horne P, Ruth DM, Griffin J, Cleveland DW, Cashman NR, Chakrabartty A (2007) An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS. Nat Med 13:754\u2013759. https:\/\/doi.org\/10.1038\/nm1559","journal-title":"Nat Med"},{"key":"2087_CR72","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/s13024-018-0268-2","volume":"13","author":"Y Ren","year":"2018","unstructured":"Ren Y, van Blitterswijk M, Allen M, Carrasquillo MM, Reddy JS, Wang X, Beach TG, Dickson DW, Ertekin-Taner N, Asmann YW, Rademakers R (2018) TMEM106B haplotypes have distinct gene expression patterns in aged brain. Mol Neurodegener 13:35. https:\/\/doi.org\/10.1186\/s13024-018-0268-2","journal-title":"Mol Neurodegener"},{"key":"2087_CR73","doi-asserted-by":"crossref","unstructured":"Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC,Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW,\u2026 Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257\u2013268. doi:10.1016\/j.neuron.2011.09.010","DOI":"10.1016\/j.neuron.2011.09.010"},{"key":"2087_CR74","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1016\/j.cels.2017.02.009","volume":"4","author":"H Rhinn","year":"2017","unstructured":"Rhinn H, Abeliovich A (2017) Differential aging analysis in human cerebral cortex identifies variants in TMEM106B and GRN that regulate aging phenotypes. Cell Syst 4:404\u2013415e405. https:\/\/doi.org\/10.1016\/j.cels.2017.02.009","journal-title":"Cell Syst"},{"key":"2087_CR75","doi-asserted-by":"publisher","unstructured":"Ross CA, Poirier MA (2004) Protein aggregation and neurodegenerative disease. Nat Med 10 Suppl:S 10\u201317. https:\/\/doi.org\/10.1038\/nm1066","DOI":"10.1038\/nm1066"},{"key":"2087_CR76","doi-asserted-by":"publisher","unstructured":"Rothstein JD, Warlick C, Coyne AN (2023) Highly variable molecular signatures of TDP-43 loss of function are associated with nuclear pore complex injury in a population study of sporadic ALS patient iPSNs. https:\/\/doi.org\/10.1101\/2023.12.12.571299. bioRxiv","DOI":"10.1101\/2023.12.12.571299"},{"key":"2087_CR77","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1212\/WNL.0b013e318264e3ac","volume":"79","author":"NJ Rutherford","year":"2012","unstructured":"Rutherford NJ, Carrasquillo MM, Li M, Bisceglio G, Menke J, Josephs KA, Parisi JE, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Rademakers R (2012) TMEM106B risk variant is implicated in the pathologic presentation of alzheimer disease. Neurology 79:717\u2013718. https:\/\/doi.org\/10.1212\/WNL.0b013e318264e3ac","journal-title":"Neurology"},{"key":"2087_CR78","doi-asserted-by":"publisher","first-page":"4799","DOI":"10.1038\/s41598-022-08724-w","volume":"12","author":"S Ryan","year":"2022","unstructured":"Ryan S, Rollinson S, Hobbs E, Pickering-Brown S (2022) C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm. Sci Rep 12:4799. https:\/\/doi.org\/10.1038\/s41598-022-08724-w","journal-title":"Sci Rep"},{"key":"2087_CR79","doi-asserted-by":"publisher","first-page":"e13078","DOI":"10.1111\/bpa.13078","volume":"32","author":"S Salvany","year":"2022","unstructured":"Salvany S, Casanovas A, Piedrafita L, Gras S, Calder\u00f3 J, Esquerda JE (2022) Accumulation of misfolded SOD1 outlines distinct patterns of motor neuron pathology and death during disease progression in a SOD1. Brain Pathol 32:e13078. https:\/\/doi.org\/10.1111\/bpa.13078","journal-title":"Brain Pathol"},{"key":"2087_CR80","doi-asserted-by":"publisher","unstructured":"Schweighauser M, Arseni D, Bacioglu M, Huang M, L\u00f6vestam S, Shi Y, Yang Y, Zhang W,Kotecha A, Garringer HJ, Vidal R, Hallinan GI, Newell KL, Tarutani A, Murayama S,Miyazaki M, Saito Y, Yoshida M, Hasegawa K,\u2026 Scheres SHW (2022) Age-dependent formation of TMEM106B amyloid filaments in human brains. Nature 605:310\u2013314. https:\/\/doi.org\/10.1038\/s41586-022-04650-z","DOI":"10.1038\/s41586-022-04650-z"},{"key":"2087_CR81","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1002\/embj.201385857","volume":"33","author":"BM Schwenk","year":"2014","unstructured":"Schwenk BM, Lang CM, Hogl S, Tahirovic S, Orozco D, Rentzsch K, Lichtenthaler SF, Hoogenraad CC, Capell A, Haass C, Edbauer D (2014) The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes. EMBO J 33:450\u2013467. https:\/\/doi.org\/10.1002\/embj.201385857","journal-title":"EMBO J"},{"key":"2087_CR82","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.neulet.2009.04.031","volume":"458","author":"X Shan","year":"2009","unstructured":"Shan X, Vocadlo D, Krieger C (2009) Mislocalization of TDP-43 in the G93A mutant SOD1 Transgenic mouse model of ALS. Neurosci Lett 458:70\u201374. https:\/\/doi.org\/10.1016\/j.neulet.2009.04.031","journal-title":"Neurosci Lett"},{"key":"2087_CR83","doi-asserted-by":"publisher","first-page":"1668","DOI":"10.1126\/science.1154584","volume":"319","author":"J Sreedharan","year":"2008","unstructured":"Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE (2008) TDP-43 mutations in Familial and sporadic amyotrophic lateral sclerosis. Science 319:1668\u20131672. https:\/\/doi.org\/10.1126\/science.1154584","journal-title":"Science"},{"key":"2087_CR84","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.mcn.2014.07.006","volume":"61","author":"M Stagi","year":"2014","unstructured":"Stagi M, Klein ZA, Gould TJ, Bewersdorf J, Strittmatter SM (2014) Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B. Mol Cell Neurosci 61:226\u2013240. https:\/\/doi.org\/10.1016\/j.mcn.2014.07.006","journal-title":"Mol Cell Neurosci"},{"key":"2087_CR85","doi-asserted-by":"publisher","unstructured":"Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang W-Y, Fostvedt E, Jansen-West K,Belzil VV, Desaro P, Johnston A, Overstreet K, Oh S-Y, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK,\u2026 Disney MD (2014) Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD\/ALS. Neuron 83:1043\u20131050. https:\/\/doi.org\/10.1016\/j.neuron.2014.07.041","DOI":"10.1016\/j.neuron.2014.07.041"},{"key":"2087_CR86","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/s40035-017-0077-5","volume":"6","author":"P Sweeney","year":"2017","unstructured":"Sweeney P, Park H, Baumann M, Dunlop J, Frydman J, Kopito R, McCampbell A, Leblanc G, Venkateswaran A, Nurmi A, Hodgson R (2017) Protein misfolding in neurodegenerative diseases: implications and strategies. Transl Neurodegener 6:6. https:\/\/doi.org\/10.1186\/s40035-017-0077-5","journal-title":"Transl Neurodegener"},{"key":"2087_CR87","doi-asserted-by":"publisher","unstructured":"Tak YJ, Park JH, Rhim H, Kang S (2020) ALS-Related mutant SOD1 aggregates interfere with mitophagy by sequestering the autophagy receptor optineurin. Int J Mol Sci 21. https:\/\/doi.org\/10.3390\/ijms21207525","DOI":"10.3390\/ijms21207525"},{"key":"2087_CR88","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1186\/s40478-024-01911-y","volume":"12","author":"EG Thompson","year":"2024","unstructured":"Thompson EG, Spead O, Akerman SC, Curcio C, Zaepfel BL, Kent ER, Philips T, Vijayakumar BG, Zacco A, Zhou W, Nagappan G, Rothstein JD (2024) A robust evaluation of TDP-43, Poly GP, cellular pathology and behavior in an AAV-C9ORF72 (G(4)C(2))(66) mouse model. Acta Neuropathol Commun 12:203. https:\/\/doi.org\/10.1186\/s40478-024-01911-y","journal-title":"Acta Neuropathol Commun"},{"key":"2087_CR89","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/s13024-023-00653-0","volume":"18","author":"SO Tom\u00e9","year":"2023","unstructured":"Tom\u00e9 SO, Tsaka G, Ronisz A, Ospitalieri S, Gawor K, Gomes LA, Otto M, von Arnim CAF, Van Damme P, Van Den Bosch L, Ghebremedhin E, Laureyssen C, Sleegers K, Vandenberghe R, Rousseau F, Schymkowitz J, Thal DR (2023) TDP-43 pathology is associated with increased Tau burdens and seeding. Mol Neurodegeneration 18:71. https:\/\/doi.org\/10.1186\/s13024-023-00653-0","journal-title":"Mol Neurodegeneration"},{"key":"2087_CR90","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/s40478-022-01421-9","volume":"10","author":"BG Trist","year":"2022","unstructured":"Trist BG, Fifita JA, Hogan A, Grima N, Smith B, Troakes C, Vance C, Shaw C, Al-Sarraj S, Blair IP, Double KL (2022) Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration. Acta Neuropathol Commun 10:122. https:\/\/doi.org\/10.1186\/s40478-022-01421-9","journal-title":"Acta Neuropathol Commun"},{"key":"2087_CR91","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1002\/ana.25486","volume":"85","author":"TF Tropea","year":"2019","unstructured":"Tropea TF, Mak J, Guo MH, Xie SX, Suh E, Rick J, Siderowf A, Weintraub D, Grossman M, Irwin D, Wolk DA, Trojanowski JQ, Van Deerlin V, Chen-Plotkin AS (2019) TMEM106B effect on cognition in Parkinson disease and frontotemporal dementia. Ann Neurol 85:801\u2013811. https:\/\/doi.org\/10.1002\/ana.25486","journal-title":"Ann Neurol"},{"key":"2087_CR92","doi-asserted-by":"publisher","first-page":"3155","DOI":"10.1073\/pnas.93.7.3155","volume":"93","author":"PH Tu","year":"1996","unstructured":"Tu PH, Raju P, Robinson KA, Gurney ME, Trojanowski JQ, Lee VM (1996) Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. Proc Natl Acad Sci U S A 93:3155\u20133160. https:\/\/doi.org\/10.1073\/pnas.93.7.3155","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2087_CR93","doi-asserted-by":"publisher","unstructured":"van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ,\u2026 Rademakers R (2014) TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol 127:397\u2013406. https:\/\/doi.org\/10.1007\/s00401-013-1240-4","DOI":"10.1007\/s00401-013-1240-4"},{"key":"2087_CR94","doi-asserted-by":"publisher","unstructured":"Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S,\u2026 Lee VM(2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 42:234\u2013239. https:\/\/doi.org\/10.1038\/ng.536","DOI":"10.1038\/ng.536"},{"key":"2087_CR95","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1007\/s00401-010-0782-y","volume":"121","author":"R Vass","year":"2011","unstructured":"Vass R, Ashbridge E, Geser F, Hu WT, Grossman M, Clay-Falcone D, Elman L, McCluskey L, Lee VM, Van Deerlin VM, Trojanowski JQ, Chen-Plotkin AS (2011) Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis. Acta Neuropathol 121:373\u2013380. https:\/\/doi.org\/10.1007\/s00401-010-0782-y","journal-title":"Acta Neuropathol"},{"key":"2087_CR96","doi-asserted-by":"publisher","first-page":"e1002287","DOI":"10.1371\/journal.pmed.1002287","volume":"14","author":"CC White","year":"2017","unstructured":"White CC, Yang HS, Yu L, Chibnik LB, Dawe RJ, Yang J, Klein HU, Felsky D, Ramos-Miguel A, Arfanakis K, Honer WG, Sperling RA, Schneider JA, Bennett DA, De Jager PL (2017) Identification of genes associated with dissociation of cognitive performance and neuropathological burden: multistep analysis of genetic, epigenetic, and transcriptional data. PLoS Med 14:e1002287. https:\/\/doi.org\/10.1371\/journal.pmed.1002287","journal-title":"PLoS Med"},{"key":"2087_CR97","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.1016\/0896-6273(95)90259-7","volume":"14","author":"PC Wong","year":"1995","unstructured":"Wong PC, Pardo CA, Borchelt DR, Lee MK, Copeland NG, Jenkins NA, Sisodia SS, Cleveland DW, Price DL (1995) An adverse property of a Familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14:1105\u20131116. https:\/\/doi.org\/10.1016\/0896-6273(95)90259-7","journal-title":"Neuron"},{"key":"2087_CR98","doi-asserted-by":"publisher","unstructured":"Yabata H, Riku Y, Miyahara H, Akagi A, Sone J, Urushitani M, Yoshida M, Iwasaki Y (2023) Nuclear expression of TDP-43 is linked with morphology and ubiquitylation of cytoplasmic aggregates in amyotrophic lateral sclerosis. Int J Mol Sci 24. https:\/\/doi.org\/10.3390\/ijms241512176","DOI":"10.3390\/ijms241512176"},{"key":"2087_CR99","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/j.neuron.2007.01.010","volume":"53","author":"Y Yoshiyama","year":"2007","unstructured":"Yoshiyama Y, Higuchi M, Zhang B, Huang SM, Iwata N, Saido TC, Maeda J, Suhara T, Trojanowski JQ, Lee VM (2007) Synapse loss and microglial activation precede tangles in a P301S tauopathy mouse model. Neuron 53:337\u2013351. https:\/\/doi.org\/10.1016\/j.neuron.2007.01.010","journal-title":"Neuron"},{"key":"2087_CR100","doi-asserted-by":"publisher","first-page":"6270","DOI":"10.1007\/s12035-015-9537-z","volume":"53","author":"C Yung","year":"2016","unstructured":"Yung C, Sha D, Li L, Chin LS (2016) Parkin protects against misfolded SOD1 toxicity by promoting its aggresome formation and autophagic clearance. Mol Neurobiol 53:6270\u20136287. https:\/\/doi.org\/10.1007\/s12035-015-9537-z","journal-title":"Mol Neurobiol"},{"key":"2087_CR101","doi-asserted-by":"publisher","unstructured":"Zhou X, Nicholson AM, Ren Y, Brooks M, Jiang P, Zuberi A, Phuoc HN, Perkerson RB,Matchett B, Parsons TM, Finch NA, Lin W, Qiao W, Castanedes-Casey M, Phillips V, Librero AL, Asmann Y, Bu G, Murray ME,\u2026 Rademakers R (2020) Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies. Brain 143:1905\u20131919. https:\/\/doi.org\/10.1093\/brain\/awaa141","DOI":"10.1093\/brain\/awaa141"}],"container-title":["Acta Neuropathologica Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-025-02087-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40478-025-02087-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-025-02087-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T20:06:15Z","timestamp":1757361975000},"score":1,"resource":{"primary":{"URL":"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-025-02087-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,9]]},"references-count":101,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2087"],"URL":"https:\/\/doi.org\/10.1186\/s40478-025-02087-9","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.10.16.618765","asserted-by":"object"}]},"ISSN":["2051-5960"],"issn-type":[{"value":"2051-5960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,9]]},"assertion":[{"value":"21 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All animal procedures complied with animal protocols approved by the Animal Use Committee at the Johns Hopkins University School of Medicine (JHUSOM). All human ALS tissues used within this study were deidentified and collected under standard IRB approved consents from each of the participating human tissue sources. Tissues obtained from the Johns Hopkins Alzheimer\u2019s Disease Research Center were collected under IRB 00082277.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"169"}}