{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:53:18Z","timestamp":1793159598298,"version":"4.5.0"},"reference-count":139,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:00:00Z","timestamp":1789862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:00:00Z","timestamp":1789862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Transl Neurodegener"],"DOI":"10.1186\/s40035-026-00580-2","type":"journal-article","created":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:41:03Z","timestamp":1789890063000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["What can we learn on ALS pathophysiology from iPSC-derived motor neurons harbouring TARBDP mutations: a systematic review"],"prefix":"10.1186","volume":"15","author":[{"given":"Elena","family":"Pasho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Catanese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edor","family":"Kabashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorana","family":"Ciura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,20]]},"reference":[{"issue":"9578","key":"580_CR1","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1016\/S0140-6736(07)60944-1","volume":"369","author":"J Mitchell","year":"2007","unstructured":"Mitchell J, Borasio G. Amyotrophic lateral sclerosis. Lancet. 2007;369(9578):2031\u201341.\u00a0","journal-title":"Lancet"},{"issue":"3\u20134","key":"580_CR2","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1080\/21678421.2016.1267768","volume":"18","author":"MJ Strong","year":"2017","unstructured":"Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, et al. Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener. 2017;18(3\u20134):153\u201374.","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"580_CR3","doi-asserted-by":"publisher","DOI":"10.17879\/FREENEUROPATHOLOGY-2021-3323","author":"C Duyckaerts","year":"2021","unstructured":"Duyckaerts C, Maisonobe T, Hauw JJ, Seilhean D. Charcot identifies and illustrates amyotrophic lateral sclerosis. Free Neuropathol. 2021.","journal-title":"Free Neuropathol"},{"issue":"2","key":"580_CR4","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1002\/mus.26801","volume":"62","author":"NA Goyal","year":"2020","unstructured":"Goyal NA, Berry JD, Windebank A, Staff NP, Maragakis NJ, Van Den Berg LH, et al. Addressing heterogeneity in amyotrophic lateral sclerosis clinical trials. Muscle Nerve. 2020;62(2):156\u201366.","journal-title":"Muscle Nerve"},{"issue":"1","key":"580_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s40035-023-00377-7","volume":"12","author":"L Zhu","year":"2023","unstructured":"Zhu L, Li S, Li XJ, Yin P. Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges. Transl Neurodegener. 2023;12(1):46.","journal-title":"Transl Neurodegener"},{"key":"580_CR6","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2019.01310","volume":"13","author":"R Mejzini","year":"2019","unstructured":"Mejzini R, Flynn LL, Pitout IL, Fletcher S, Wilton SD, Akkari PA. ALS genetics, mechanisms, and therapeutics: where are we now? Front Neurosci. 2019;13:1310.","journal-title":"Front Neurosci"},{"issue":"2","key":"580_CR7","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.pnpbp.2010.08.006","volume":"35","author":"V Swarup","year":"2011","unstructured":"Swarup V, Julien JP. ALS pathogenesis: recent insights from genetics and mouse models. Prog Neuropsychopharmacol Biol Psychiatry. 2011;35(2):363\u20139.","journal-title":"Prog Neuropsychopharmacol Biol Psychiatry"},{"key":"580_CR8","doi-asserted-by":"crossref","unstructured":"Miller R, Mitchell J, Lyon M, Moore D. Riluzole for amyotrophic lateral sclerosis (ALS)\/motor neuron disease (MND). In: The Cochrane Collaboration, ed. Cochrane Database of systematic reviews. Chichester, UK: John Wiley & Sons, Ltd; 2002 [cited 2025 Aug 20]. p. CD001447.","DOI":"10.1002\/14651858.CD001447"},{"issue":"7","key":"580_CR9","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/S1474-4422(17)30115-1","volume":"16","author":"K Abe","year":"2017","unstructured":"Abe K, Aoki M, Tsuji S, Itoyama Y, Sobue G, Togo M, et al. Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2017;16(7):505\u201312.","journal-title":"Lancet Neurol"},{"issue":"12","key":"580_CR10","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1056\/NEJMoa2204705","volume":"387","author":"TM Miller","year":"2022","unstructured":"Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, et al. Trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med. 2022;387(12):1099\u2013110.","journal-title":"N Engl J Med"},{"issue":"4","key":"580_CR11","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1007\/s13311-022-01237-4","volume":"19","author":"M Benatar","year":"2022","unstructured":"Benatar M, Wuu J, Andersen PM, Bucelli RC, Andrews JA, Otto M, et al. Design of a randomized, placebo-controlled, phase 3 trial of tofersen initiated in clinically presymptomatic SOD1 variant carriers: the ATLAS study. Neurotherapeutics. 2022;19(4):1248\u201358.","journal-title":"Neurotherapeutics"},{"issue":"11","key":"580_CR12","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1007\/s40265-023-01904-6","volume":"83","author":"HA Blair","year":"2023","unstructured":"Blair HA. Tofersen: first approval. Drugs. 2023;83(11):1039\u201343.","journal-title":"Drugs"},{"key":"580_CR13","doi-asserted-by":"publisher","first-page":"175628642110303","DOI":"10.1177\/17562864211030365","volume":"14","author":"JS Mora","year":"2021","unstructured":"Mora JS, Bradley WG, Chaverri D, Hern\u00e1ndez-Barral M, Mascias J, Gamez J, et al. Long-term survival analysis of masitinib in amyotrophic lateral sclerosis. Ther Adv Neurol Disord. 2021;14:17562864211030364.","journal-title":"Ther Adv Neurol Disord"},{"issue":"2","key":"580_CR14","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1002\/mus.27569","volume":"66","author":"S Paganoni","year":"2022","unstructured":"Paganoni S, Watkins C, Cawson M, Hendrix S, Dickson SP, Knowlton N, et al. Survival analyses from the CENTAUR trial in amyotrophic lateral sclerosis: evaluating the impact of treatment crossover on outcomes. Muscle Nerve. 2022;66(2):136\u201341.","journal-title":"Muscle Nerve"},{"issue":"4","key":"580_CR15","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1038\/nn.4273","volume":"19","author":"S Sances","year":"2016","unstructured":"Sances S, Bruijn LI, Chandran S, Eggan K, Ho R, Klim JR, et al. Modeling ALS with motor neurons derived from human induced pluripotent stem cells. Nat Neurosci. 2016;19(4):542\u201353.","journal-title":"Nat Neurosci"},{"issue":"23","key":"580_CR16","doi-asserted-by":"publisher","first-page":"3679","DOI":"10.1080\/15384101.2015.1093712","volume":"14","author":"AS De Boer","year":"2015","unstructured":"De Boer AS, Eggan K. A perspective on stem cell modeling of amyotrophic lateral sclerosis. Cell Cycle. 2015;14(23):3679\u201388.","journal-title":"Cell Cycle"},{"key":"580_CR17","first-page":"9","volume":"19","author":"A Kaus","year":"2015","unstructured":"Kaus A, Sareen D. ALS patient stem cells for unveiling disease signatures of motoneuron susceptibility: perspectives on the deadly mitochondria, ER stress and calcium triad. Front Cell Neurosci. 2015;19:9.","journal-title":"Front Cell Neurosci"},{"issue":"2","key":"580_CR18","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1111\/bpa.12353","volume":"26","author":"M Myszczynska","year":"2016","unstructured":"Myszczynska M, Ferraiuolo L. New in vitro models to study amyotrophic lateral sclerosis. Brain Pathol. 2016;26(2):258\u201365.","journal-title":"Brain Pathol"},{"key":"580_CR19","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2019.104680","volume":"134","author":"J Hawrot","year":"2020","unstructured":"Hawrot J, Imhof S, Wainger BJ. Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs. Neurobiol Dis. 2020;134:104680.","journal-title":"Neurobiol Dis"},{"issue":"7","key":"580_CR20","doi-asserted-by":"publisher","first-page":"1919","DOI":"10.2217\/rme-2020-0067","volume":"15","author":"JF Vasques","year":"2020","unstructured":"Vasques JF, Mendez-Otero R, Gubert F. Modeling ALS using iPSCs: is it possible to reproduce the phenotypic variations observed in patients in vitro\u202f? Regen Med. 2020;15(7):1919\u201333.","journal-title":"Regen Med"},{"issue":"7","key":"580_CR21","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1136\/jnnp-2016-315018","volume":"88","author":"ZY Zou","year":"2017","unstructured":"Zou ZY, Zhou ZR, Che CH, Liu CY, He RL, Huang HP. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2017;88(7):540\u20139.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"580_CR22","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-017-0480-2","volume":"5","author":"RH Tan","year":"2017","unstructured":"Tan RH, Yang Y, Kim WS, Dobson-Stone C, Kwok JB, Kiernan MC, et al. Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis. Acta Neuropathol Commun. 2017;5(1):76.","journal-title":"Acta Neuropathol Commun"},{"issue":"3","key":"580_CR23","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.neuron.2013.07.033","volume":"79","author":"SC Ling","year":"2013","unstructured":"Ling SC, Polymenidou M, Cleveland DW. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron. 2013;79(3):416\u201338.","journal-title":"Neuron"},{"issue":"5796","key":"580_CR24","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1126\/science.1134108","volume":"314","author":"M Neumann","year":"2006","unstructured":"Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314(5796):130\u20133.","journal-title":"Science"},{"issue":"3","key":"580_CR25","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1016\/S0092-8674(02)00835-8","volume":"110","author":"H Wichterle","year":"2002","unstructured":"Wichterle H, Lieberam I, Porter JA, Jessell TM. Directed differentiation of embryonic stem cells into motor neurons. Cell. 2002;110(3):385\u201397.","journal-title":"Cell"},{"key":"580_CR26","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2014.00293","volume":"8","author":"N Stifani","year":"2014","unstructured":"Stifani N. Motor neurons and the generation of spinal motor neuron diversity. Front Cell Neurosci. 2014;8:293.","journal-title":"Front Cell Neurosci"},{"key":"580_CR27","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.1089970","volume":"10","author":"CM Castillo Bautista","year":"2023","unstructured":"Castillo Bautista CM, Sterneckert J. Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons. Front Cell Dev Biol. 2023;10:1089970.","journal-title":"Front Cell Dev Biol"},{"issue":"2","key":"580_CR28","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1523\/JNEUROSCI.0906-12.2013","volume":"33","author":"MW Amoroso","year":"2013","unstructured":"Amoroso MW, Croft GF, Williams DJ, O\u2019Keeffe S, Carrasco MA, Davis AR, et al. Accelerated high-yield generation of limb-innervating motor neurons from human stem cells. J Neurosci. 2013;33(2):574\u201386.","journal-title":"J Neurosci"},{"issue":"4","key":"580_CR29","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1634\/stemcells.2007-0620","volume":"26","author":"XJ Li","year":"2008","unstructured":"Li XJ, Hu BY, Jones SA, Zhang YS, LaVaute T, Du ZW, et al. Directed differentiation of ventral spinal progenitors and motor neurons from human embryonic stem cells by small molecules. Stem Cells. 2008;26(4):886\u201393.","journal-title":"Stem Cells"},{"issue":"1","key":"580_CR30","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/nbt.3049","volume":"33","author":"Y Maury","year":"2015","unstructured":"Maury Y, C\u00f4me J, Piskorowski RA, Salah-Mohellibi N, Chevaleyre V, Peschanski M, et al. Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes. Nat Biotechnol. 2015;33(1):89\u201396.","journal-title":"Nat Biotechnol"},{"issue":"1","key":"580_CR31","doi-asserted-by":"publisher","first-page":"6626","DOI":"10.1038\/ncomms7626","volume":"6","author":"ZW Du","year":"2015","unstructured":"Du ZW, Chen H, Liu H, Lu J, Qian K, Huang CL, et al. Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells. Nat Commun. 2015;6(1):6626.","journal-title":"Nat Commun"},{"key":"580_CR32","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1016\/j.conb.2020.12.002","volume":"66","author":"S Nedelec","year":"2021","unstructured":"Nedelec S, Martinez-Arias A. In vitro models of spinal motor circuit\u2019s development in mammals: achievements and challenges. Curr Opin Neurobiol. 2021;66:240\u20139.","journal-title":"Curr Opin Neurobiol"},{"issue":"11","key":"580_CR33","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1016\/j.biocel.2010.07.018","volume":"42","author":"JH Boergermann","year":"2010","unstructured":"Boergermann JH, Kopf J, Yu PB, Knaus P. Dorsomorphin and LDN-193189 inhibit BMP-mediated Smad, p38 and Akt signalling in C2C12 cells. Int J Biochem Cell Biol. 2010;42(11):1802\u20137.","journal-title":"Int J Biochem Cell Biol"},{"issue":"7","key":"580_CR34","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103418","volume":"9","author":"D Pr\u00e8","year":"2014","unstructured":"Pr\u00e8 D, Nestor MW, Sproul AA, Jacob S, Koppensteiner P, Chinchalongporn V, et al. A time course analysis of the electrophysiological properties of neurons differentiated from human induced pluripotent stem cells (iPSCs). PLoS ONE. 2014;9(7):e103418.","journal-title":"PLoS ONE"},{"issue":"1","key":"580_CR35","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-025-05284-8","volume":"63","author":"\u0160 Dana\u010d\u00edkov\u00e1","year":"2026","unstructured":"Dana\u010d\u00edkov\u00e1 \u0160, Pecina P, Pecinov\u00e1 A, Svoboda J, Vondr\u00e1\u0161ek D, Basello DA, et al. Development of cellular energy metabolism during differentiation of human iPSCs into cortical neurons. Mol Neurobiol. 2026;63(1):37.","journal-title":"Mol Neurobiol"},{"issue":"1","key":"580_CR36","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-023-01050-w","volume":"16","author":"A Onda-Ohto","year":"2023","unstructured":"Onda-Ohto A, Hasegawa-Ogawa M, Matsuno H, Shiraishi T, Bono K, Hiraki H, et al. Specific vulnerability of iPSC-derived motor neurons with TDP-43 gene mutation to oxidative stress. Mol Brain. 2023;16(1):62.","journal-title":"Mol Brain"},{"issue":"9","key":"580_CR37","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.113046","volume":"42","author":"A Held","year":"2023","unstructured":"Held A, Adler M, Marques C, Reyes CJ, Kavuturu AS, Quadros ARAA, et al. iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons. Cell Rep. 2023;42(9):113046.","journal-title":"Cell Rep"},{"issue":"4","key":"580_CR38","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1016\/S0896-6273(01)80026-X","volume":"23","author":"S Arber","year":"1999","unstructured":"Arber S, Han B, Mendelsohn M, Smith M, Jessell TM, Sockanathan S. Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron. 1999;23(4):659\u201374.","journal-title":"Neuron"},{"issue":"6","key":"580_CR39","doi-asserted-by":"publisher","first-page":"ENEURO.0214-22.","DOI":"10.1523\/ENEURO.0214-22.2022","volume":"9","author":"S Letchuman","year":"2022","unstructured":"Letchuman S, Tucker A, Miranda D, Adkins RL, Aceves M, Dietz V, et al. Transcription factor Hb9 is expressed in glial cell lineages in the developing mouse spinal cord. eNeuro. 2022;9(6):ENEURO.0214-22.2022.","journal-title":"eNeuro"},{"issue":"6","key":"580_CR40","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-023-04797-6","volume":"80","author":"C Lefebvre-Omar","year":"2023","unstructured":"Lefebvre-Omar C, Liu E, Dalle C, d\u2019Incamps BL, Bigou S, Daube C, et al. Neurofilament accumulations in amyotrophic lateral sclerosis patients\u2019 motor neurons impair axonal initial segment integrity. Cell Mol Life Sci. 2023;80(6):150.","journal-title":"Cell Mol Life Sci"},{"issue":"3","key":"580_CR41","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2024.109166","volume":"27","author":"S L\u00e9pine","year":"2024","unstructured":"L\u00e9pine S, Nauleau-Javaudin A, Deneault E, Chen CXQ, Abdian N, Franco-Flores AK, et al. Homozygous ALS-linked mutations in TARDBP\/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons. iScience. 2024;27(3):109166.","journal-title":"iScience"},{"issue":"6","key":"580_CR42","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1007\/s00401-017-1708-8","volume":"133","author":"J Nijssen","year":"2017","unstructured":"Nijssen J, Comley LH, Hedlund E. Motor neuron vulnerability and resistance in amyotrophic lateral sclerosis. Acta Neuropathol (Berl). 2017;133(6):863\u201385.","journal-title":"Acta Neuropathol (Berl)"},{"issue":"1","key":"580_CR43","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-37630-6","volume":"14","author":"OJ Ziff","year":"2023","unstructured":"Ziff OJ, Neeves J, Mitchell J, Tyzack G, Martinez-Ruiz C, Luisier R, et al. Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology. Nat Commun. 2023;14(1):2176.","journal-title":"Nat Commun"},{"issue":"15","key":"580_CR44","doi-asserted-by":"publisher","first-page":"5803","DOI":"10.1073\/pnas.1202922109","volume":"109","author":"B Bilican","year":"2012","unstructured":"Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, et al. Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proc Natl Acad Sci U S A. 2012;109(15):5803\u20138.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"580_CR45","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/nbt.1529","volume":"27","author":"SM Chambers","year":"2009","unstructured":"Chambers SM, Fasano CA, Papapetrou EP, Tomishima M, Sadelain M, Studer L. Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat Biotechnol. 2009;27(3):275\u201380.","journal-title":"Nat Biotechnol"},{"key":"580_CR46","doi-asserted-by":"crossref","unstructured":"Egawa N, Kitaoka S, Tsukita K, Naitoh M, Takahashi K, Yamamoto T, et al. Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med. 2012.","DOI":"10.1126\/scitranslmed.3004052"},{"issue":"8","key":"580_CR47","doi-asserted-by":"publisher","first-page":"e6722","DOI":"10.1371\/journal.pone.0006722","volume":"4","author":"T Wada","year":"2009","unstructured":"Wada T, Honda M, Minami I, Tooi N, Amagai Y, Nakatsuji N, et al. Highly efficient differentiation and enrichment of spinal motor neurons derived from human and monkey embryonic stem cells. Najbauer J, editor. PLoS ONE. 2009;4(8):e6722.","journal-title":"PLoS ONE"},{"issue":"10","key":"580_CR48","doi-asserted-by":"publisher","first-page":"e76055","DOI":"10.1371\/journal.pone.0076055","volume":"8","author":"Z Zhang","year":"2013","unstructured":"Zhang Z, Almeida S, Lu Y, Nishimura AL, Peng L, Sun D, et al. Downregulation of MicroRNA-9 in iPSC-derived neurons of FTD\/ALS patients with TDP-43 mutations. Pandey U, editor. PLoS ONE. 2013;8(10):e76055.","journal-title":"PLoS ONE"},{"issue":"2","key":"580_CR49","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1016\/j.stem.2012.04.027","volume":"11","author":"The HD iPSC Consortium","year":"2012","unstructured":"The HD iPSC Consortium. Induced pluripotent stem cells from patients with huntington\u2019s disease show CAG-repeat-expansion-associated phenotypes. Cell Stem Cell. 2012;11(2):264\u201378.","journal-title":"Cell Stem Cell"},{"issue":"3","key":"580_CR50","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1016\/j.neuron.2013.12.018","volume":"81","author":"NH Alami","year":"2014","unstructured":"Alami NH, Smith RB, Carrasco MA, Williams LA, Winborn CS, Han SSW, et al. Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. Neuron. 2014;81(3):536\u201343.","journal-title":"Neuron"},{"issue":"5893","key":"580_CR51","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1126\/science.1158799","volume":"321","author":"JT Dimos","year":"2008","unstructured":"Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. 2008;321(5893):1218\u201321.","journal-title":"Science"},{"issue":"1","key":"580_CR52","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6999","volume":"6","author":"AC Devlin","year":"2015","unstructured":"Devlin AC, Burr K, Borooah S, Foster JD, Cleary EM, Geti I, et al. Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability. Nat Commun. 2015;6(1):5999.","journal-title":"Nat Commun"},{"key":"580_CR53","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2018.00086","volume":"12","author":"ER Seminary","year":"2018","unstructured":"Seminary ER, Sison SL, Ebert AD. Modeling protein aggregation and the heat shock response in ALS iPSC-derived motor neurons. Front Neurosci. 2018;12:86.","journal-title":"Front Neurosci"},{"key":"580_CR54","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.scr.2018.05.009","volume":"30","author":"P Bossolasco","year":"2018","unstructured":"Bossolasco P, Sassone F, Gumina V, Peverelli S, Garzo M, Silani V. Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient. Stem Cell Res. 2018;30:61\u20138.","journal-title":"Stem Cell Res"},{"key":"580_CR55","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.nbd.2018.03.010","volume":"115","author":"N Kreiter","year":"2018","unstructured":"Kreiter N, Pal A, Lojewski X, Corcia P, Naujock M, Reinhardt P, et al. Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation. Neurobiol Dis. 2018;115:167\u201381.","journal-title":"Neurobiol Dis"},{"issue":"3","key":"580_CR56","doi-asserted-by":"publisher","first-page":"e59252","DOI":"10.1371\/journal.pone.0059252","volume":"8","author":"P Reinhardt","year":"2013","unstructured":"Reinhardt P, Glatza M, Hemmer K, Tsytsyura Y, Thiel CS, H\u00f6ing S, et al. Derivation and expansion using only small molecules of human neural progenitors for neurodegenerative disease modelling. Daadi M, editor. PLoS ONE. 2013;8(3):e59252.","journal-title":"PLoS ONE"},{"issue":"10","key":"580_CR57","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1038\/s41591-018-0140-5","volume":"24","author":"K Fujimori","year":"2018","unstructured":"Fujimori K, Ishikawa M, Otomo A, Atsuta N, Nakamura R, Akiyama T, et al. Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent. Nat Med. 2018;24(10):1579\u201389.","journal-title":"Nat Med"},{"issue":"1","key":"580_CR58","doi-asserted-by":"publisher","DOI":"10.1186\/s13287-018-1048-1","volume":"9","author":"X Sun","year":"2018","unstructured":"Sun X, Song J, Huang H, Chen H, Qian K. Modeling hallmark pathology using motor neurons derived from the family and sporadic amyotrophic lateral sclerosis patient-specific iPS cells. Stem Cell Res Ther. 2018;9(1):315.","journal-title":"Stem Cell Res Ther"},{"issue":"2","key":"580_CR59","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/s41593-018-0300-4","volume":"22","author":"JR Klim","year":"2019","unstructured":"Klim JR, Williams LA, Limone F, Guerra San Juan I, Davis-Dusenbery BN, Mordes DA, et al. ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair. Nat Neurosci. 2019;22(2):167\u201379.","journal-title":"Nat Neurosci"},{"issue":"5","key":"580_CR60","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1016\/j.neuron.2019.05.048","volume":"103","author":"MY Fang","year":"2019","unstructured":"Fang MY, Markmiller S, Vu AQ, Javaherian A, Dowdle WE, Jolivet P, et al. Small-molecule modulation of TDP-43 recruitment to stress granules prevents persistent TDP-43 accumulation in ALS\/FTD. Neuron. 2019;103(5):802-819.e11.","journal-title":"Neuron"},{"issue":"17","key":"580_CR61","doi-asserted-by":"publisher","first-page":"2835","DOI":"10.1093\/hmg\/ddz107","volume":"28","author":"F Bursch","year":"2019","unstructured":"Bursch F, Kalmbach N, Naujock M, Staege S, Eggenschwiler R, Abo-Rady M, et al. Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations. Hum Mol Genet. 2019;28(17):2835\u201350.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"580_CR62","doi-asserted-by":"publisher","first-page":"1563","DOI":"10.1002\/stem.2354","volume":"34","author":"M Naujock","year":"2016","unstructured":"Naujock M, Stanslowsky N, Bufler S, Naumann M, Reinhardt P, Sterneckert J, et al. 4-Aminopyridine induced activity rescues hypoexcitable motor neurons from amyotrophic lateral sclerosis patient-derived induced pluripotent stem cells. Stem Cells. 2016;34(6):1563\u201375.","journal-title":"Stem Cells"},{"issue":"5","key":"580_CR63","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1016\/j.stemcr.2020.03.023","volume":"14","author":"R Dafinca","year":"2020","unstructured":"Dafinca R, Barbagallo P, Farrimond L, Candalija A, Scaber J, Ababneh NA, et al. Impairment of mitochondrial calcium buffering links mutations in C9ORF72 and TARDBP in iPS-derived motor neurons from patients with ALS\/FTD. Stem Cell Rep. 2020;14(5):892\u2013908.","journal-title":"Stem Cell Rep"},{"key":"580_CR64","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2020.105051","volume":"145","author":"A Ratti","year":"2020","unstructured":"Ratti A, Gumina V, Lenzi P, Bossolasco P, Fulceri F, Volpe C, et al. Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneurons. Neurobiol Dis. 2020;145:105051.","journal-title":"Neurobiol Dis"},{"issue":"3","key":"580_CR65","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1016\/j.cell.2020.09.020","volume":"183","author":"CH Yu","year":"2020","unstructured":"Yu CH, Davidson S, Harapas CR, Hilton JB, Mlodzianoski MJ, Laohamonthonkul P, et al. TDP-43 triggers mitochondrial DNA release via mPTP to activate cGAS\/STING in ALS. Cell. 2020;183(3):636-649.e18.","journal-title":"Cell"},{"issue":"10","key":"580_CR66","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-020-03102-8","volume":"11","author":"SY Choi","year":"2020","unstructured":"Choi SY, Lee JH, Chung AY, Jo Y, Shin J, Park HC, et al. Prevention of mitochondrial impairment by inhibition of protein phosphatase 1 activity in amyotrophic lateral sclerosis. Cell Death Dis. 2020;11(10):888.","journal-title":"Cell Death Dis"},{"issue":"2","key":"580_CR67","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.neuron.2016.09.015","volume":"92","author":"R Lopez-Gonzalez","year":"2016","unstructured":"Lopez-Gonzalez R, Lu Y, Gendron TF, Karydas A, Tran H, Yang D, et al. Poly(GR) in C9ORF72-related ALS\/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons. Neuron. 2016;92(2):383\u201391.","journal-title":"Neuron"},{"issue":"7","key":"580_CR68","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2020106177","volume":"40","author":"R Fazal","year":"2021","unstructured":"Fazal R, Boeynaems S, Swijsen A, De Decker M, Fumagalli L, Moisse M, et al. HDAC6 inhibition restores TDP-43 pathology and axonal transport defects in human motor neurons with TARDBP mutations. EMBO J. 2021;40(7):EMBJ2020106177.","journal-title":"EMBO J"},{"issue":"6","key":"580_CR69","doi-asserted-by":"publisher","first-page":"1527","DOI":"10.1016\/j.stemcr.2021.04.021","volume":"16","author":"S Mitsuzawa","year":"2021","unstructured":"Mitsuzawa S, Suzuki N, Akiyama T, Ishikawa M, Sone T, Kawada J, et al. Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations. Stem Cell Reports. 2021;16(6):1527\u201341.","journal-title":"Stem Cell Reports"},{"issue":"9","key":"580_CR70","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.728707","volume":"29","author":"AST Smith","year":"2021","unstructured":"Smith AST, Chun C, Hesson J, Mathieu J, Valdmanis PN, Mack DL, et al. Human induced pluripotent stem cell-derived TDP-43 mutant neurons exhibit consistent functional phenotypes across multiple gene edited lines despite transcriptomic and splicing discrepancies. Front Cell Dev Biol. 2021;29(9):728707.","journal-title":"Front Cell Dev Biol"},{"issue":"17","key":"580_CR71","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179652","volume":"23","author":"BP Dash","year":"2022","unstructured":"Dash BP, Freischmidt A, Weishaupt JH, Hermann A. Downstream effects of mutations in SOD1 and TARDBP converge on gene expression impairment in patient-derived motor neurons. Int J Mol Sci. 2022;23(17):9652.","journal-title":"Int J Mol Sci"},{"issue":"3","key":"580_CR72","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/s00401-022-02450-3","volume":"144","author":"F Krach","year":"2022","unstructured":"Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, et al. Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. Acta Neuropathol. 2022;144(3):413\u201335.","journal-title":"Acta Neuropathol"},{"issue":"24","key":"580_CR73","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232416222","volume":"23","author":"B Valdebenito-Maturana","year":"2022","unstructured":"Valdebenito-Maturana B, Rojas-Tapia MI, Carrasco M, Tapia JC. Dysregulated expression of transposable elements in TDP-43M337V human motor neurons that recapitulate amyotrophic lateral sclerosis in vitro. Int J Mol Sci. 2022;23(24):16222.","journal-title":"Int J Mol Sci"},{"key":"580_CR74","unstructured":"Varderidou-Minasian S, Pasteuning-Vuhman S, Timmers A, Altelaar M, Lorenowicz MJ, Pasterkamp RJ. Amyotrophic lateral sclerosis proteomic signature and treatment with mesenchymal stem cell-derived extracellular vesicles. bioRxiv. 2022."},{"issue":"3","key":"580_CR75","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1007\/s00401-023-02611-y","volume":"146","author":"A Aly","year":"2023","unstructured":"Aly A, Laszlo ZI, Rajkumar S, Demir T, Hindley N, Lamont DJ, et al. Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS. Acta Neuropathol. 2023;146(3):451\u201375.","journal-title":"Acta Neuropathol"},{"issue":"7","key":"580_CR76","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202013131","volume":"13","author":"A Catanese","year":"2021","unstructured":"Catanese A, Rajkumar S, Sommer D, Freisem D, Wirth A, Aly A, et al. Synaptic disruption and CREB\u2010regulated transcription are restored by K+ channel blockers in ALS. EMBO Mol Med. 2021;13(7):EMMM202013131.","journal-title":"EMBO Mol Med"},{"key":"580_CR77","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.26945","volume":"6","author":"JA Briggs","year":"2017","unstructured":"Briggs JA, Li VC, Lee S, Woolf CJ, Klein A, Kirschner MW. Mouse embryonic stem cells can differentiate via multiple paths to the same state. Elife. 2017;6:e26945.","journal-title":"Elife"},{"issue":"9","key":"580_CR78","doi-asserted-by":"publisher","first-page":"3770","DOI":"10.1093\/brain\/awad075","volume":"146","author":"A Catanese","year":"2023","unstructured":"Catanese A, Rajkumar S, Sommer D, Masrori P, Hersmus N, Van Damme P, et al. Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis. Brain. 2023;146(9):3770\u201382.","journal-title":"Brain"},{"issue":"12","key":"580_CR79","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.113509","volume":"42","author":"P Harley","year":"2023","unstructured":"Harley P, Kerins C, Gatt A, Neves G, Riccio F, Machado CB, et al. Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons. Cell Rep. 2023;42(12):113509.","journal-title":"Cell Rep"},{"key":"580_CR80","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2023.1327361","volume":"17","author":"ME Watts","year":"2024","unstructured":"Watts ME, Giadone RM, Ordureau A, Holton KM, Harper JW, Rubin LL. Analyzing the ER stress response in ALS patient derived motor neurons identifies druggable neuroprotective targets. Front Cell Neurosci. 2024;17:1327361.","journal-title":"Front Cell Neurosci"},{"issue":"5","key":"580_CR81","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcae350","volume":"6","author":"R Dafinca","year":"2024","unstructured":"Dafinca R, Tosat-Bitrian C, Carroll E, Vahsen BF, Gilbert-Jaramillo J, Scaber J, et al. Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons. Brain Commun. 2024;6(5):fcae350.","journal-title":"Brain Commun"},{"issue":"1","key":"580_CR82","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-59679-1","volume":"16","author":"C Schweingruber","year":"2025","unstructured":"Schweingruber C, Nijssen J, Mechtersheimer J, Reber S, Leb\u0153uf M, O\u2019Brien NL, et al. Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS. Nat Commun. 2025;16(1):4633.","journal-title":"Nat Commun"},{"issue":"1","key":"580_CR83","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-025-12147-8","volume":"15","author":"S L\u00e9pine","year":"2025","unstructured":"L\u00e9pine S, Maussion G, Schneider A, Nauleau-Javaudin A, Castellanos-Montiel MJ, Ambriz GJ, et al. Transcriptome-based screening in TARDBP\/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924. Sci Rep. 2025;15(1):28555.","journal-title":"Sci Rep"},{"issue":"10","key":"580_CR84","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2025.102649","volume":"20","author":"G Ma","year":"2025","unstructured":"Ma G, Xia C, Lyu B, Liu J, Luo F, Guan M, et al. Integrated profiling of iPSC-derived motor neurons carrying C9orf72, FUS, TARDBP, or SOD1 mutations. Stem Cell Rep. 2025;20(10):102649.","journal-title":"Stem Cell Rep"},{"issue":"R2","key":"580_CR85","doi-asserted-by":"publisher","first-page":"R156","DOI":"10.1093\/hmg\/ddp303","volume":"18","author":"GS Pesiridis","year":"2009","unstructured":"Pesiridis GS, Lee VMY, Trojanowski JQ. Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum Mol Genet. 2009;18(R2):R156\u201362.","journal-title":"Hum Mol Genet"},{"issue":"4","key":"580_CR86","doi-asserted-by":"publisher","first-page":"238","DOI":"10.3109\/17482968.2011.584629","volume":"12","author":"CM Lill","year":"2011","unstructured":"Lill CM, Abel O, Bertram L, Al-Chalabi A. Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotroph Lateral Scler. 2011;12(4):238\u201349.","journal-title":"Amyotroph Lateral Scler"},{"key":"580_CR87","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00463","volume":"11","author":"A Lissouba","year":"2018","unstructured":"Lissouba A, Liao M, Kabashi E, Drapeau P. Transcriptomic analysis of zebrafish TDP-43 transgenic lines. Front Mol Neurosci. 2018;11:463.","journal-title":"Front Mol Neurosci"},{"issue":"4","key":"580_CR88","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1093\/hmg\/ddp534","volume":"19","author":"E Kabashi","year":"2010","unstructured":"Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, et al. Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet. 2010;19(4):671\u201383.","journal-title":"Hum Mol Genet"},{"key":"580_CR89","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.nbd.2014.01.004","volume":"65","author":"VB Tripathi","year":"2014","unstructured":"Tripathi VB, Baskaran P, Shaw CE, Guthrie S. Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo. Neurobiol Dis. 2014;65:25\u201334.","journal-title":"Neurobiol Dis"},{"issue":"1","key":"580_CR90","doi-asserted-by":"publisher","first-page":"171","DOI":"10.4103\/2152-7806.169561","volume":"6","author":"S Zarei","year":"2015","unstructured":"Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano P, et al. A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int. 2015;6(1):171.","journal-title":"Surg Neurol Int"},{"key":"580_CR91","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/j.freeradbiomed.2013.06.029","volume":"65","author":"E D\u2019Amico","year":"2013","unstructured":"D\u2019Amico E, Factor-Litvak P, Santella RM, Mitsumoto H. Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis. Free Radic Biol Med. 2013;65:509\u201327.","journal-title":"Free Radic Biol Med"},{"issue":"6","key":"580_CR92","doi-asserted-by":"publisher","first-page":"2445","DOI":"10.1038\/s41380-023-02036-9","volume":"28","author":"W Luan","year":"2023","unstructured":"Luan W, Wright AL, Brown-Wright H, Le S, San Gil R, Madrid San Martin L, et al. Early activation of cellular stress and death pathways caused by cytoplasmic TDP-43 in the rNLS8 mouse model of ALS and FTD. Mol Psychiatry. 2023;28(6):2445\u201361.","journal-title":"Mol Psychiatry"},{"key":"580_CR93","doi-asserted-by":"crossref","unstructured":"Walker AK, Atkin JD. Stress signaling from the endoplasmic reticulum: a central player in the pathogenesis of amyotrophic lateral sclerosis. IUBMB Life. 2011.","DOI":"10.1002\/iub.520"},{"issue":"2","key":"580_CR94","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1111\/j.1460-9568.2007.05306.x","volume":"25","author":"C Bories","year":"2007","unstructured":"Bories C, Amendola J, Lamotte d\u2019Incamps B, Durand J. Early electrophysiological abnormalities in lumbar motoneurons in a transgenic mouse model of amyotrophic lateral sclerosis. Eur J Neurosci. 2007;25(2):451\u20139.","journal-title":"Eur J Neurosci"},{"issue":"1","key":"580_CR95","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/ana.21425","volume":"64","author":"M Hasegawa","year":"2008","unstructured":"Hasegawa M, Arai T, Nonaka T, Kametani F, Yoshida M, Hashizume Y, et al. Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol. 2008;64(1):60\u201370.","journal-title":"Ann Neurol"},{"issue":"1","key":"580_CR96","doi-asserted-by":"publisher","first-page":"182","DOI":"10.2353\/ajpath.2008.080003","volume":"173","author":"LM Igaz","year":"2008","unstructured":"Igaz LM, Kwong LK, Xu Y, Truax AC, Uryu K, Neumann M, et al. Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Am J Pathol. 2008;173(1):182\u201394.","journal-title":"Am J Pathol"},{"issue":"7","key":"580_CR97","doi-asserted-by":"publisher","first-page":"1975","DOI":"10.1093\/brain\/awaa098","volume":"143","author":"AR Gafson","year":"2020","unstructured":"Gafson AR, Barth\u00e9lemy NR, Bomont P, Carare RO, Durham HD, Julien JP, et al. Neurofilaments: neurobiological foundations for biomarker applications. Brain. 2020;143(7):1975\u201398.","journal-title":"Brain"},{"key":"580_CR98","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.01167","volume":"9","author":"K Poesen","year":"2019","unstructured":"Poesen K, Van Damme P. Diagnostic and prognostic performance of neurofilaments in ALS. Front Neurol. 2019;9:1167.","journal-title":"Front Neurol"},{"issue":"11\u201312","key":"580_CR99","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1016\/j.bbadis.2006.09.003","volume":"1762","author":"S Xiao","year":"2006","unstructured":"Xiao S, McLean J, Robertson J. Neuronal intermediate filaments and ALS: a new look at an old question. Biochim Biophys Acta BBA Mol Basis Dis. 2006;1762(11\u201312):1001\u201312.","journal-title":"Biochim Biophys Acta BBA Mol Basis Dis"},{"issue":"6526","key":"580_CR100","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1038\/375061a0","volume":"375","author":"JF Collard","year":"1995","unstructured":"Collard JF, C\u00f4t\u00e9 F, Julien JP. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature. 1995;375(6526):61\u20134.","journal-title":"Nature"},{"issue":"6","key":"580_CR101","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/S0962-8924(97)01049-0","volume":"7","author":"JP Julien","year":"1997","unstructured":"Julien JP. Neurofilaments and motor neuron disease. Trends Cell Biol. 1997;7(6):243\u20139.","journal-title":"Trends Cell Biol"},{"issue":"3","key":"580_CR102","doi-asserted-by":"publisher","DOI":"10.3390\/jpm10030101","volume":"10","author":"L Le Gall","year":"2020","unstructured":"Le Gall L, Anakor E, Connolly O, Vijayakumar U, Duddy W, Duguez S. Molecular and cellular mechanisms affected in ALS. J Pers Med. 2020;10(3):101.","journal-title":"J Pers Med"},{"issue":"9","key":"580_CR103","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2022.826719","volume":"2","author":"JL Carey","year":"2022","unstructured":"Carey JL, Guo L. Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases. Front Mol Biosci. 2022;2(9):826719.","journal-title":"Front Mol Biosci"},{"issue":"6","key":"580_CR104","doi-asserted-by":"publisher","first-page":"932","DOI":"10.1016\/j.molcel.2009.11.020","volume":"36","author":"JR Buchan","year":"2009","unstructured":"Buchan JR, Parker R. Eukaryotic stress granules: the ins and outs of translation. Mol Cell. 2009;36(6):932\u201341.","journal-title":"Mol Cell"},{"issue":"10","key":"580_CR105","doi-asserted-by":"publisher","first-page":"e13250","DOI":"10.1371\/journal.pone.0013250","volume":"5","author":"L Liu-Yesucevitz","year":"2010","unstructured":"Liu-Yesucevitz L, Bilgutay A, Zhang YJ, Vanderwyde T, Citro A, Mehta T, et al. Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue. Bush AI, editor. PLoS ONE. 2010;5(10):e13250.","journal-title":"PLoS ONE"},{"issue":"4","key":"580_CR106","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1016\/j.neuron.2017.07.025","volume":"95","author":"IR Mackenzie","year":"2017","unstructured":"Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, et al. TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics. Neuron. 2017;95(4):808-816.e9.","journal-title":"Neuron"},{"issue":"6248","key":"580_CR107","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1126\/science.aab0983","volume":"349","author":"JP Ling","year":"2015","unstructured":"Ling JP, Pletnikova O, Troncoso JC, Wong PC. TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD. Science. 2015;349(6248):650\u20135.","journal-title":"Science"},{"issue":"7899","key":"580_CR108","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1038\/s41586-022-04424-7","volume":"603","author":"XR Ma","year":"2022","unstructured":"Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, et al. TDP-43 represses cryptic exon inclusion in the FTD\u2013ALS gene UNC13A. Nature. 2022;603(7899):124\u201330.","journal-title":"Nature"},{"issue":"7899","key":"580_CR109","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1038\/s41586-022-04436-3","volume":"603","author":"AL Brown","year":"2022","unstructured":"Brown AL, Wilkins OG, Keuss MJ, Kargbo-Hill SE, Zanovello M, Lee WC, et al. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature. 2022;603(7899):131\u20137.","journal-title":"Nature"},{"issue":"8","key":"580_CR110","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1111\/bph.12476","volume":"171","author":"H Muyderman","year":"2014","unstructured":"Muyderman H, Chen T. Mitochondrial dysfunction in amyotrophic lateral sclerosis\u2014A valid pharmacological target? Br J Pharmacol. 2014;171(8):2191\u2013205.","journal-title":"Br J Pharmacol"},{"issue":"1","key":"580_CR111","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1326-6-73","volume":"6","author":"YF Xu","year":"2011","unstructured":"Xu YF, Zhang YJ, Lin WL, Cao X, Stetler C, Dickson DW, et al. Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice. Mol Neurodegener. 2011;6(1):73.","journal-title":"Mol Neurodegener"},{"issue":"23","key":"580_CR112","doi-asserted-by":"publisher","first-page":"4706","DOI":"10.1093\/hmg\/ddt319","volume":"22","author":"W Wang","year":"2013","unstructured":"Wang W, Li L, Lin WL, Dickson DW, Petrucelli L, Zhang T, et al. The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons. Hum Mol Genet. 2013;22(23):4706\u201319.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"580_CR113","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-016-0316-5","volume":"4","author":"E Onesto","year":"2016","unstructured":"Onesto E, Colombrita C, Gumina V, Borghi MO, Dusi S, Doretti A, et al. Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts. Acta Neuropathol Commun. 2016;4(1):47.","journal-title":"Acta Neuropathol Commun"},{"key":"580_CR114","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2021.113620","volume":"339","author":"G Debska-Vielhaber","year":"2021","unstructured":"Debska-Vielhaber G, Miller I, Peeva V, Zuschratter W, Walczak J, Schreiber S, et al. Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers. Exp Neurol. 2021;339:113620.","journal-title":"Exp Neurol"},{"issue":"4","key":"580_CR115","doi-asserted-by":"publisher","DOI":"10.3390\/antiox14040401","volume":"14","author":"G Petito","year":"2025","unstructured":"Petito G, Del Fiore VS, Cuomo A, Cioffi F, Cobellis G, Lanni A, et al. Dysfunctional mitochondria characterize amyotrophic lateral sclerosis patients\u2019 cells carrying the p.G376D TARDBP pathogenetic substitution. Antioxidants (Basel). 2025;14(4):401.","journal-title":"Antioxidants (Basel)"},{"issue":"1","key":"580_CR116","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-97928-7","volume":"11","author":"T Singh","year":"2021","unstructured":"Singh T, Jiao Y, Ferrando LM, Yablonska S, Li F, Horoszko EC, et al. Neuronal mitochondrial dysfunction in sporadic amyotrophic lateral sclerosis is developmentally regulated. Sci Rep. 2021;11(1):18916.","journal-title":"Sci Rep"},{"issue":"8","key":"580_CR117","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1038\/nm.4130","volume":"22","author":"W Wang","year":"2016","unstructured":"Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, et al. The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity. Nat Med. 2016;22(8):869\u201378.","journal-title":"Nat Med"},{"issue":"6","key":"580_CR118","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1016\/j.stem.2023.04.017","volume":"30","author":"S Morimoto","year":"2023","unstructured":"Morimoto S, Takahashi S, Ito D, Dat\u00e9 Y, Okada K, Kato C, et al. Phase 1\/2a clinical trial in ALS with ropinirole, a drug candidate identified by iPSC drug discovery. Cell Stem Cell. 2023;30(6):766-780.e9.","journal-title":"Cell Stem Cell"},{"key":"580_CR119","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.962881","volume":"10","author":"MA Amor\u00f3s","year":"2022","unstructured":"Amor\u00f3s MA, Choi ES, Cofr\u00e9 AR, Dokholyan NV, Duzzioni M. Motor neuron-derived induced pluripotent stem cells as a drug screening platform for amyotrophic lateral sclerosis. Front Cell Dev Biol. 2022;10:962881.","journal-title":"Front Cell Dev Biol"},{"issue":"5","key":"580_CR120","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1111\/jnc.16005","volume":"167","author":"H Okano","year":"2023","unstructured":"Okano H, Morimoto S, Kato C, Nakahara J, Takahashi S. Induced pluripotent stem cells\u2010based disease modeling, drug screening, clinical trials, and reverse translational research for amyotrophic lateral sclerosis. J Neurochem. 2023;167(5):603\u201314.","journal-title":"J Neurochem"},{"issue":"12","key":"580_CR121","doi-asserted-by":"publisher","first-page":"4697","DOI":"10.1073\/pnas.1300398110","volume":"110","author":"A Serio","year":"2013","unstructured":"Serio A, Bilican B, Barmada SJ, Ando DM, Zhao C, Siller R, et al. Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy. Proc Natl Acad Sci U S A. 2013;110(12):4697\u2013702.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"580_CR122","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1016\/j.neuron.2022.02.010","volume":"110","author":"C Arredondo","year":"2022","unstructured":"Arredondo C, Cefaliello C, Dyrda A, Jury N, Martinez P, D\u00edaz I, et al. Excessive release of inorganic polyphosphate by ALS\/FTD astrocytes causes non-cell-autonomous toxicity to motoneurons. Neuron. 2022;110(10):1656-1670.e12.","journal-title":"Neuron"},{"issue":"11","key":"580_CR123","doi-asserted-by":"publisher","first-page":"1226604","DOI":"10.3389\/fcell.2023.1226604","volume":"28","author":"F Rojas","year":"2023","unstructured":"Rojas F, Aguilar R, Almeida S, Fritz E, Corval\u00e1n D, Ampuero E, et al. Mature iPSC-derived astrocytes of an ALS\/FTD patient carrying the TDP43A90V mutation display a mild reactive state and release polyP toxic to motoneurons. Front Cell Dev Biol. 2023;28(11):1226604.","journal-title":"Front Cell Dev Biol"},{"key":"580_CR124","doi-asserted-by":"crossref","unstructured":"Ferraiuolo L, Meyer K, Sherwood TW, Vick J, Likhite S, Frakes A, et al. Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism. Proc Natl Acad Sci. 2016.","DOI":"10.1073\/pnas.1607496113"},{"key":"580_CR125","doi-asserted-by":"publisher","first-page":"fcab255","DOI":"10.1093\/braincomms\/fcab255","volume":"3","author":"SK Barton","year":"2021","unstructured":"Barton SK, Magnani D, James OG, Livesey MR, Selvaraj BT, James OT, et al. TDP-43 proteinopathy in oligodendrocytes revealed using an induced pluripotent stem cell model. Brain Commun. 2021;3:fcab255.","journal-title":"Brain Commun"},{"issue":"12","key":"580_CR126","doi-asserted-by":"publisher","first-page":"1357204","DOI":"10.3389\/fcell.2024.1357204","volume":"15","author":"K Matsuo","year":"2024","unstructured":"Matsuo K, Nagamatsu J, Nagata K, Umeda R, Shiota T, Morimoto S, et al. Establishment of a novel amyotrophic lateral sclerosis patient (TARDBPN345K\/+)-derived brain microvascular endothelial cell model reveals defective Wnt\/\u03b2-catenin signaling: investigating diffusion barrier dysfunction and immune cell interaction. Front Cell Dev Biol. 2024;15(12):1357204.","journal-title":"Front Cell Dev Biol"},{"issue":"1","key":"580_CR127","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.scr.2016.06.003","volume":"17","author":"J Lenzi","year":"2016","unstructured":"Lenzi J, Pagani F, De Santis R, Limatola C, Bozzoni I, Di Angelantonio S, et al. Differentiation of control and ALS mutant human iPSCs into functional skeletal muscle cells, a tool for the study of neuromuscolar diseases. Stem Cell Res. 2016;17(1):140\u20137.","journal-title":"Stem Cell Res"},{"key":"580_CR128","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2021.113815","volume":"345","author":"EM Lynch","year":"2021","unstructured":"Lynch EM, Robertson S, FitzGibbons C, Reilly M, Switalski C, Eckardt A, et al. Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS. Exp Neurol. 2021;345:113815.","journal-title":"Exp Neurol"},{"issue":"10","key":"580_CR129","doi-asserted-by":"publisher","first-page":"eaat5847","DOI":"10.1126\/sciadv.aat5847","volume":"4","author":"T Osaki","year":"2018","unstructured":"Osaki T, Uzel SGM, Kamm RD. Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons. Sci Adv. 2018;4(10):eaat5847.","journal-title":"Sci Adv"},{"issue":"2","key":"580_CR130","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/s41593-018-0293-z","volume":"22","author":"Z Melamed","year":"2019","unstructured":"Melamed Z, L\u00f3pez-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, et al. Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. Nat Neurosci. 2019;22(2):180\u201390.","journal-title":"Nat Neurosci"},{"issue":"3","key":"580_CR131","doi-asserted-by":"publisher","first-page":"ENEURO.0061","DOI":"10.1523\/ENEURO.0061-22.2022","volume":"9","author":"K Imaizumi","year":"2022","unstructured":"Imaizumi K, Ideno H, Sato T, Morimoto S, Okano H. Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner: implications for the pathogenesis of ALS\/FTLD. eNeuro. 2022;9(3):ENEURO.0061-22.2022.","journal-title":"eNeuro"},{"key":"580_CR132","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2023.1251228","volume":"17","author":"M Fang","year":"2023","unstructured":"Fang M, Deibler SK, Nana AL, Vatsavayai SC, Banday S, Zhou Y, et al. Loss of TDP-43 function contributes to genomic instability in amyotrophic lateral sclerosis. Front Neurosci. 2023;17:1251228.","journal-title":"Front Neurosci"},{"key":"580_CR133","doi-asserted-by":"publisher","DOI":"10.3389\/fmmed.2023.1047540","volume":"3","author":"K Stoklund Dittlau","year":"2023","unstructured":"Stoklund Dittlau K, Van Den Bosch L. Why should we care about astrocytes in a motor neuron disease. Front Mol Med. 2023;3:1047540.","journal-title":"Front Mol Med"},{"key":"580_CR134","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2024.1375330","volume":"17","author":"M Jamet","year":"2024","unstructured":"Jamet M, Dupuis L, Gonzalez De Aguilar JL. Oligodendrocytes in amyotrophic lateral sclerosis and frontotemporal dementia: the new players on stage. Front Mol Neurosci. 2024;17:1375330.","journal-title":"Front Mol Neurosci"},{"key":"580_CR135","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.bbi.2022.06.004","volume":"105","author":"S Garofalo","year":"2022","unstructured":"Garofalo S, Cocozza G, Bernardini G, Savage J, Raspa M, Aronica E, et al. Blocking immune cell infiltration of the central nervous system to tame neuroinflammation in amyotrophic lateral sclerosis. Brain Behav Immun. 2022;105:1\u201314.","journal-title":"Brain Behav Immun"},{"issue":"3","key":"580_CR136","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1007\/s12031-010-9467-1","volume":"43","author":"M Dadon-Nachum","year":"2011","unstructured":"Dadon-Nachum M, Melamed E, Offen D. The \u201cdying-back\u201d phenomenon of motor neurons in ALS. J Mol Neurosci. 2011;43(3):470\u20137.","journal-title":"J Mol Neurosci"},{"issue":"10","key":"580_CR137","doi-asserted-by":"publisher","first-page":"841","DOI":"10.2165\/11640070-000000000-00000","volume":"26","author":"RE Seltman","year":"2012","unstructured":"Seltman RE, Matthews BR. Frontotemporal lobar degeneration: epidemiology, pathology diagnosis and management. CNS Drugs. 2012;26(10):841\u201370.","journal-title":"CNS Drugs"},{"issue":"8","key":"580_CR138","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/nmeth777","volume":"2","author":"AM Taylor","year":"2005","unstructured":"Taylor AM, Blurton-Jones M, Rhee SW, Cribbs DH, Cotman CW, Jeon NL. A microfluidic culture platform for CNS axonal injury, regeneration and transport. Nat Methods. 2005;2(8):599\u2013605.","journal-title":"Nat Methods"},{"issue":"1","key":"580_CR139","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-31720-7","volume":"13","author":"KL Marshall","year":"2023","unstructured":"Marshall KL, Rajbhandari L, Venkatesan A, Maragakis NJ, Farah MH. Enhanced axonal regeneration of ALS patient iPSC-derived motor neurons harboring SOD1A4V mutation. Sci Rep. 2023;13(1):5597.","journal-title":"Sci Rep"}],"container-title":["Translational Neurodegeneration"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40035-026-00580-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40035-026-00580-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40035-026-00580-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:02:13Z","timestamp":1789894933000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s40035-026-00580-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,20]]},"references-count":139,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["580"],"URL":"https:\/\/doi.org\/10.1186\/s40035-026-00580-2","relation":{},"ISSN":["2047-9158"],"issn-type":[{"value":"2047-9158","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,20]]},"assertion":[{"value":"2 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 September 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":4,"name":"Ethics","label":"Clinical trial number","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"49"}}