{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T07:07:49Z","timestamp":1792825669655,"version":"4.5.0"},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:00:00Z","timestamp":1732147200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:00:00Z","timestamp":1732147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2025,4]]},"DOI":"10.1007\/s10072-024-07840-x","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T06:45:19Z","timestamp":1732171519000},"page":"1661-1686","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosis"],"prefix":"10.1007","volume":"46","author":[{"given":"Dipan","family":"Maity","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8519-274X","authenticated-orcid":false,"given":"Ravinder K","family":"Kaundal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,21]]},"reference":[{"issue":"10107","key":"7840_CR1","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1016\/S0140-6736(17)31287-4","volume":"390","author":"MA van Es","year":"2017","unstructured":"van Es MA, Hardiman O, Chio A, Al-Chalabi A, Pasterkamp RJ, Veldink JH et al (2017) Amyotrophic lateral sclerosis. Lancet 390(10107):2084\u20132098","journal-title":"Lancet"},{"issue":"3","key":"7840_CR2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/s41573-022-00612-2","volume":"22","author":"RJ Mead","year":"2023","unstructured":"Mead RJ, Shan N, Reiser HJ, Marshall F, Shaw PJ (2023) Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation. Nat Rev Drug Discov 22(3):185\u2013212","journal-title":"Nat Rev Drug Discov"},{"issue":"4","key":"7840_CR3","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1007\/s12640-018-9980-5","volume":"35","author":"PW French","year":"2019","unstructured":"French PW, Ludowyke R, Guillemin GJ (2019) Fungal neurotoxins and sporadic amyotrophic lateral sclerosis. Neurotox Res 35(4):969\u2013980","journal-title":"Neurotox Res"},{"issue":"2","key":"7840_CR4","doi-asserted-by":"crossref","first-page":"112025","DOI":"10.1016\/j.celrep.2023.112025","volume":"42","author":"B Szewczyk","year":"2023","unstructured":"Szewczyk B, Gunther R, Japtok J, Frech MJ, Naumann M, Lee HO et al (2023) FUS ALS neurons activate major stress pathways and reduce translation as an early protective mechanism against neurodegeneration. Cell Rep 42(2):112025","journal-title":"Cell Rep"},{"issue":"2","key":"7840_CR5","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S1474-4422(18)30394-6","volume":"18","author":"DR Beers","year":"2019","unstructured":"Beers DR, Appel SH (2019) Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies. Lancet Neurol 18(2):211\u2013220","journal-title":"Lancet Neurol"},{"issue":"9","key":"7840_CR6","doi-asserted-by":"crossref","first-page":"3347","DOI":"10.1073\/pnas.1112427109","volume":"109","author":"Y Kawahara","year":"2012","unstructured":"Kawahara Y, Mieda-Sato A (2012) TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes. Proc Natl Acad Sci U S A 109(9):3347\u20133352","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"7840_CR7","doi-asserted-by":"crossref","first-page":"108152","DOI":"10.1016\/j.isci.2023.108152","volume":"26","author":"WY Ho","year":"2023","unstructured":"Ho WY, Chak LL, Hor JH, Liu F, Diaz-Garcia S, Chang JC et al (2023) FUS-dependent microRNA deregulations identify TRIB2 as a druggable target for ALS motor neurons. iScience 26(11):108152","journal-title":"iScience"},{"issue":"12","key":"7840_CR8","doi-asserted-by":"crossref","first-page":"3569","DOI":"10.1007\/s10072-020-04773-z","volume":"41","author":"L Wang","year":"2020","unstructured":"Wang L, Zhang L (2020) MicroRNAs in amyotrophic lateral sclerosis: from pathogenetic involvement to diagnostic biomarker and therapeutic agent development. Neurol Sci 41(12):3569\u20133577","journal-title":"Neurol Sci"},{"issue":"5","key":"7840_CR9","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/nri.2016.40","volume":"16","author":"A Mehta","year":"2016","unstructured":"Mehta A, Baltimore D (2016) MicroRNAs as regulatory elements in immune system logic. Nat Rev Immunol 16(5):279\u2013294","journal-title":"Nat Rev Immunol"},{"issue":"5","key":"7840_CR10","doi-asserted-by":"crossref","first-page":"5451","DOI":"10.1002\/jcp.27486","volume":"234","author":"K Saliminejad","year":"2019","unstructured":"Saliminejad K, Khorram Khorshid HR, Soleymani Fard S, Ghaffari SH (2019) An overview of microRNAs: Biology, functions, therapeutics, and analysis methods. J Cell Physiol 234(5):5451\u20135465","journal-title":"J Cell Physiol"},{"issue":"19","key":"7840_CR11","doi-asserted-by":"crossref","first-page":"3582","DOI":"10.1016\/j.jmb.2013.03.007","volume":"425","author":"AM Gurtan","year":"2013","unstructured":"Gurtan AM, Sharp PA (2013) The role of miRNAs in regulating gene expression networks. J Mol Biol 425(19):3582\u20133600","journal-title":"J Mol Biol"},{"key":"7840_CR12","doi-asserted-by":"crossref","first-page":"106","DOI":"10.3389\/fnmol.2018.00106","volume":"11","author":"K Vrabec","year":"2018","unstructured":"Vrabec K, Bostjancic E, Koritnik B, Leonardis L, Dolenc Groselj L, Zidar J et al (2018) Differential expression of several miRNAs and the host genes AATK and DNM2 in leukocytes of sporadic ALS patients. Front Mol Neurosci 11:106","journal-title":"Front Mol Neurosci"},{"issue":"2","key":"7840_CR13","doi-asserted-by":"crossref","first-page":"e89065","DOI":"10.1371\/journal.pone.0089065","volume":"9","author":"JM Toivonen","year":"2014","unstructured":"Toivonen JM, Manzano R, Olivan S, Zaragoza P, Garcia-Redondo A, Osta R (2014) MicroRNA-206: a potential circulating biomarker candidate for amyotrophic lateral sclerosis. PLoS ONE 9(2):e89065","journal-title":"PLoS ONE"},{"issue":"1","key":"7840_CR14","doi-asserted-by":"crossref","first-page":"22","DOI":"10.5414\/NP300889","volume":"35","author":"E Tasca","year":"2016","unstructured":"Tasca E, Pegoraro V, Merico A, Angelini C (2016) Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS. Clin Neuropathol 35(1):22\u201330","journal-title":"Clin Neuropathol"},{"issue":"8","key":"7840_CR15","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.3390\/biom11081220","volume":"11","author":"F Pregnolato","year":"2021","unstructured":"Pregnolato F, Cova L, Doretti A, Bardelli D, Silani V, Bossolasco P (2021) Exosome microRNAs in Amyotrophic Lateral Sclerosis: A Pilot Study. Biomolecules. 11(8):1220","journal-title":"Biomolecules."},{"issue":"3","key":"7840_CR16","doi-asserted-by":"crossref","first-page":"105","DOI":"10.5414\/NP301233","volume":"39","author":"V Pegoraro","year":"2020","unstructured":"Pegoraro V, Marozzo R, Angelini C (2020) MicroRNAs and HDAC4 protein expression in the skeletal muscle of ALS patients. Clin Neuropathol 39(3):105\u2013114","journal-title":"Clin Neuropathol"},{"key":"7840_CR17","doi-asserted-by":"crossref","first-page":"5930621","DOI":"10.1155\/2016\/5930621","volume":"2016","author":"L Jensen","year":"2016","unstructured":"Jensen L, Jorgensen LH, Bech RD, Frandsen U, Schroder HD (2016) Skeletal Muscle Remodelling as a Function of Disease Progression in Amyotrophic Lateral Sclerosis. Biomed Res Int 2016:5930621","journal-title":"Biomed Res Int"},{"issue":"2","key":"7840_CR18","doi-asserted-by":"crossref","first-page":"276","DOI":"10.3390\/cells9020276","volume":"9","author":"CE Condrat","year":"2020","unstructured":"Condrat CE, Thompson DC, Barbu MG, Bugnar OL, Boboc A, Cretoiu D et al (2020) miRNAs as biomarkers in disease: latest findings regarding their role in diagnosis and prognosis. Cells 9(2):276","journal-title":"Cells"},{"issue":"9","key":"7840_CR19","doi-asserted-by":"crossref","first-page":"3063","DOI":"10.1172\/JCI62636","volume":"122","author":"O Butovsky","year":"2012","unstructured":"Butovsky O, Siddiqui S, Gabriely G, Lanser AJ, Dake B, Murugaiyan G et al (2012) Modulating inflammatory monocytes with a unique microRNA gene signature ameliorates murine ALS. J Clin Invest 122(9):3063\u20133087","journal-title":"J Clin Invest"},{"issue":"1","key":"7840_CR20","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.gene.2012.07.058","volume":"508","author":"B De Felice","year":"2012","unstructured":"De Felice B, Guida M, Guida M, Coppola C, De Mieri G, Cotrufo R (2012) A miRNA signature in leukocytes from sporadic amyotrophic lateral sclerosis. Gene 508(1):35\u201340","journal-title":"Gene"},{"issue":"Pt 8","key":"7840_CR21","doi-asserted-by":"crossref","first-page":"2359","DOI":"10.1093\/brain\/awt164","volume":"136","author":"G Bruneteau","year":"2013","unstructured":"Bruneteau G, Simonet T, Bauche S, Mandjee N, Malfatti E, Girard E et al (2013) Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression. Brain 136(Pt 8):2359\u20132368","journal-title":"Brain"},{"key":"7840_CR22","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/2051-5960-1-42","volume":"1","author":"A Freischmidt","year":"2013","unstructured":"Freischmidt A, Muller K, Ludolph AC, Weishaupt JH (2013) Systemic dysregulation of TDP-43 binding microRNAs in amyotrophic lateral sclerosis. Acta Neuropathol Commun 1:42","journal-title":"Acta Neuropathol Commun"},{"issue":"4","key":"7840_CR23","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s10048-014-0420-2","volume":"15","author":"B De Felice","year":"2014","unstructured":"De Felice B, Annunziata A, Fiorentino G, Borra M, Biffali E, Coppola C et al (2014) miR-338-3p is over-expressed in blood, CFS, serum and spinal cord from sporadic amyotrophic lateral sclerosis patients. Neurogenetics 15(4):243\u2013253","journal-title":"Neurogenetics"},{"issue":"4","key":"7840_CR24","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s12017-016-8396-8","volume":"18","author":"M Benigni","year":"2016","unstructured":"Benigni M, Ricci C, Jones AR, Giannini F, Al-Chalabi A, Battistini S (2016) Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients. Neuromolecular Med 18(4):551\u2013560","journal-title":"Neuromolecular Med"},{"key":"7840_CR25","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.mcn.2015.12.008","volume":"71","author":"C Figueroa-Romero","year":"2016","unstructured":"Figueroa-Romero C, Hur J, Lunn JS, Paez-Colasante X, Bender DE, Yung R et al (2016) Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms. Mol Cell Neurosci 71:34\u201345","journal-title":"Mol Cell Neurosci"},{"issue":"1","key":"7840_CR26","doi-asserted-by":"crossref","first-page":"9538","DOI":"10.1038\/s41598-017-10161-z","volume":"7","author":"L Di Pietro","year":"2017","unstructured":"Di Pietro L, Baranzini M, Berardinelli MG, Lattanzi W, Monforte M, Tasca G et al (2017) Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients. Sci Rep 7(1):9538","journal-title":"Sci Rep"},{"issue":"22","key":"7840_CR27","doi-asserted-by":"crossref","first-page":"5574","DOI":"10.1523\/JNEUROSCI.3582-16.2017","volume":"37","author":"ML Hoye","year":"2017","unstructured":"Hoye ML, Koval ED, Wegener AJ, Hyman TS, Yang C, O\u2019Brien DR et al (2017) MicroRNA profiling reveals marker of motor neuron disease in ALS models. J Neurosci 37(22):5574\u20135586","journal-title":"J Neurosci"},{"key":"7840_CR28","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.jns.2017.07.008","volume":"380","author":"V Pegoraro","year":"2017","unstructured":"Pegoraro V, Merico A, Angelini C (2017) Micro-RNAs in ALS muscle: Differences in gender, age at onset and disease duration. J Neurol Sci 380:58\u201363","journal-title":"J Neurol Sci"},{"key":"7840_CR29","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.neurobiolaging.2017.03.027","volume":"55","author":"R Waller","year":"2017","unstructured":"Waller R, Goodall EF, Milo M, Cooper-Knock J, Da Costa M, Hobson E et al (2017) Serum miRNAs miR-206, 143\u20133p and 374b\u20135p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiol Aging 55:123\u2013131","journal-title":"Neurobiol Aging"},{"issue":"23","key":"7840_CR30","doi-asserted-by":"crossref","first-page":"4301","DOI":"10.1007\/s00018-018-2873-1","volume":"75","author":"AM Helferich","year":"2018","unstructured":"Helferich AM, Brockmann SJ, Reinders J, Deshpande D, Holzmann K, Brenner D et al (2018) Dysregulation of a novel miR-1825\/TBCB\/TUBA4A pathway in sporadic and familial ALS. Cell Mol Life Sci 75(23):4301\u20134319","journal-title":"Cell Mol Life Sci"},{"issue":"5","key":"7840_CR31","doi-asserted-by":"crossref","first-page":"3451","DOI":"10.1007\/s12035-018-1314-3","volume":"56","author":"A Jawaid","year":"2019","unstructured":"Jawaid A, Woldemichael BT, Kremer EA, Laferriere F, Gaur N, Afroz T et al (2019) Memory Decline and Its Reversal in Aging and Neurodegeneration Involve miR-183\/96\/182 Biogenesis. Mol Neurobiol 56(5):3451\u20133462","journal-title":"Mol Neurobiol"},{"key":"7840_CR32","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.nbd.2018.02.009","volume":"114","author":"Y Si","year":"2018","unstructured":"Si Y, Cui X, Crossman DK, Hao J, Kazamel M, Kwon Y et al (2018) Muscle microRNA signatures as biomarkers of disease progression in amyotrophic lateral sclerosis. Neurobiol Dis 114:85\u201394","journal-title":"Neurobiol Dis"},{"issue":"523","key":"7840_CR33","doi-asserted-by":"crossref","first-page":"eaav5264","DOI":"10.1126\/scitranslmed.aav5264","volume":"11","author":"I Reichenstein","year":"2019","unstructured":"Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A et al (2019) Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Sci Transl Med. 11(523):eaav5264","journal-title":"Sci Transl Med."},{"key":"7840_CR34","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.brainres.2018.12.016","volume":"1708","author":"D Saucier","year":"2019","unstructured":"Saucier D, Wajnberg G, Roy J, Beauregard AP, Chacko S, Crapoulet N et al (2019) Identification of a circulating miRNA signature in extracellular vesicles collected from amyotrophic lateral sclerosis patients. Brain Res 1708:100\u2013108","journal-title":"Brain Res"},{"key":"7840_CR35","doi-asserted-by":"crossref","first-page":"147035","DOI":"10.1016\/j.brainres.2020.147035","volume":"1746","author":"Y Arakawa","year":"2020","unstructured":"Arakawa Y, Itoh S, Fukazawa Y, Ishiguchi H, Kohmoto J, Hironishi M et al (2020) Association between oxidative stress and microRNA expression pattern of ALS patients in the high-incidence area of the Kii Peninsula. Brain Res 1746:147035","journal-title":"Brain Res"},{"issue":"1","key":"7840_CR36","doi-asserted-by":"crossref","first-page":"fcaa053","DOI":"10.1093\/braincomms\/fcaa053","volume":"2","author":"G Joilin","year":"2020","unstructured":"Joilin G, Gray E, Thompson AG, Bobeva Y, Talbot K, Weishaupt J et al (2020) Identification of a potential non-coding RNA biomarker signature for amyotrophic lateral sclerosis. Brain Commun 2(1):fcaa053","journal-title":"Brain Commun"},{"issue":"12","key":"7840_CR37","doi-asserted-by":"crossref","first-page":"4482","DOI":"10.3390\/ijms21124482","volume":"21","author":"H Kurita","year":"2020","unstructured":"Kurita H, Yabe S, Ueda T, Inden M, Kakita A, Hozumi I (2020) MicroRNA-5572 is a novel MicroRNA-Regulating SLC30A3 in sporadic amyotrophic lateral sclerosis. Int J Mol Sci. 21(12):4482","journal-title":"Int J Mol Sci."},{"key":"7840_CR38","doi-asserted-by":"crossref","first-page":"113414","DOI":"10.1016\/j.expneurol.2020.113414","volume":"333","author":"J Yelick","year":"2020","unstructured":"Yelick J, Men Y, Jin S, Seo S, Espejo-Porras F, Yang Y (2020) Elevated exosomal secretion of miR-124-3p from spinal neurons positively associates with disease severity in ALS. Exp Neurol 333:113414","journal-title":"Exp Neurol"},{"issue":"1","key":"7840_CR39","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/s41420-020-00397-6","volume":"7","author":"G Dobrowolny","year":"2021","unstructured":"Dobrowolny G, Martone J, Lepore E, Casola I, Petrucci A, Inghilleri M et al (2021) A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients. Cell Death Discov 7(1):4","journal-title":"Cell Death Discov"},{"issue":"6","key":"7840_CR40","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1007\/s13760-021-01743-w","volume":"122","author":"E Aksu-Menges","year":"2022","unstructured":"Aksu-Menges E, Balci-Hayta B, Bekircan-Kurt CE, Aydinoglu AT, Erdem-Ozdamar S, Tan E (2022) Two distinct skeletal muscle microRNA signatures revealing the complex mechanism of sporadic ALS. Acta Neurol Belg 122(6):1499\u20131509","journal-title":"Acta Neurol Belg"},{"key":"7840_CR41","doi-asserted-by":"crossref","first-page":"855096","DOI":"10.3389\/fnins.2022.855096","volume":"16","author":"M Alvia","year":"2022","unstructured":"Alvia M, Aytan N, Spencer KR, Foster ZW, Rauf NA, Guilderson L et al (2022) MicroRNA alterations in chronic traumatic encephalopathy and amyotrophic lateral sclerosis. Front Neurosci 16:855096","journal-title":"Front Neurosci"},{"issue":"1","key":"7840_CR42","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1080\/07853890.2022.2138530","volume":"54","author":"G Joilin","year":"2022","unstructured":"Joilin G, Gray E, Thompson AG, Talbot K, Leigh PN, Newbury SF et al (2022) Profiling non-coding RNA expression in cerebrospinal fluid of amyotrophic lateral sclerosis patients. Ann Med 54(1):3069\u20133078","journal-title":"Ann Med"},{"issue":"3","key":"7840_CR43","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s00018-022-04217-1","volume":"79","author":"M Rizzuti","year":"2022","unstructured":"Rizzuti M, Melzi V, Gagliardi D, Resnati D, Meneri M, Dioni L et al (2022) Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes. Cell Mol Life Sci 79(3):189","journal-title":"Cell Mol Life Sci"},{"key":"7840_CR44","doi-asserted-by":"crossref","first-page":"1106497","DOI":"10.3389\/fnagi.2023.1106497","volume":"15","author":"YF Cheng","year":"2023","unstructured":"Cheng YF, Gu XJ, Yang TM, Wei QQ, Cao B, Zhang Y et al (2023) Signature of miRNAs derived from the circulating exosomes of patients with amyotrophic lateral sclerosis. Front Aging Neurosci 15:1106497","journal-title":"Front Aging Neurosci"},{"issue":"12","key":"7840_CR45","doi-asserted-by":"crossref","first-page":"7104","DOI":"10.1007\/s12035-023-03520-7","volume":"60","author":"BC Gomes","year":"2023","unstructured":"Gomes BC, Peixinho N, Pisco R, Gromicho M, Pronto-Laborinho AC, Rueff J et al (2023) Differential expression of miRNAs in amyotrophic lateral sclerosis patients. Mol Neurobiol 60(12):7104\u20137117","journal-title":"Mol Neurobiol"},{"key":"7840_CR46","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.neuroscience.2023.05.030","volume":"524","author":"Y Liu","year":"2023","unstructured":"Liu Y, Ding M, Pan S, Zhou R, Yao J, Fu R et al (2023) MicroRNA-23a-3p is upregulated in plasma exosomes of Bulbar-onset ALS patients and targets ERBB4. Neuroscience 524:65\u201378","journal-title":"Neuroscience"},{"issue":"4","key":"7840_CR47","doi-asserted-by":"crossref","first-page":"706","DOI":"10.3390\/biom13040706","volume":"13","author":"P Ruffo","year":"2023","unstructured":"Ruffo P, Catalano S, La Bella V, Conforti FL (2023) Deregulation of Plasma microRNA Expression in a TARDBP-ALS Family. Biomolecules. 13(4):706","journal-title":"Biomolecules."},{"issue":"W1","key":"7840_CR48","doi-asserted-by":"crossref","first-page":"W60","DOI":"10.1093\/nar\/gky311","volume":"46","author":"M Franz","year":"2018","unstructured":"Franz M, Rodriguez H, Lopes C, Zuberi K, Montojo J, Bader GD et al (2018) GeneMANIA update 2018. Nucleic Acids Res 46(W1):W60\u2013W64","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"7840_CR49","doi-asserted-by":"crossref","first-page":"1714","DOI":"10.3390\/ijms21051714","volume":"21","author":"M Ravnik-Glavac","year":"2020","unstructured":"Ravnik-Glavac M, Glavac D (2020) Circulating RNAs as potential biomarkers in amyotrophic lateral sclerosis. Int J Mol Sci. 21(5):1714","journal-title":"Int J Mol Sci."},{"issue":"6","key":"7840_CR50","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1172\/JCI62656","volume":"122","author":"N Liu","year":"2012","unstructured":"Liu N, Williams AH, Maxeiner JM, Bezprozvannaya S, Shelton JM, Richardson JA et al (2012) microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. J Clin Invest 122(6):2054\u20132065","journal-title":"J Clin Invest"},{"issue":"3","key":"7840_CR51","doi-asserted-by":"crossref","first-page":"345","DOI":"10.7150\/ijbs.10921","volume":"11","author":"G Ma","year":"2015","unstructured":"Ma G, Wang Y, Li Y, Cui L, Zhao Y, Zhao B et al (2015) MiR-206, a key modulator of skeletal muscle development and disease. Int J Biol Sci 11(3):345\u2013352","journal-title":"Int J Biol Sci"},{"key":"7840_CR52","doi-asserted-by":"crossref","first-page":"7718","DOI":"10.1038\/ncomms8718","volume":"6","author":"KP Thiebes","year":"2015","unstructured":"Thiebes KP, Nam H, Cambronne XA, Shen R, Glasgow SM, Cho HH et al (2015) miR-218 is essential to establish motor neuron fate as a downstream effector of Isl1-Lhx3. Nat Commun 6:7718","journal-title":"Nat Commun"},{"issue":"6267","key":"7840_CR53","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1126\/science.aad2509","volume":"350","author":"ND Amin","year":"2015","unstructured":"Amin ND, Bai G, Klug JR, Bonanomi D, Pankratz MT, Gifford WD et al (2015) Loss of motoneuron-specific microRNA-218 causes systemic neuromuscular failure. Science 350(6267):1525\u20131529","journal-title":"Science"},{"issue":"14","key":"7840_CR54","doi-asserted-by":"crossref","first-page":"e2021770118","DOI":"10.1073\/pnas.2021770118","volume":"118","author":"SY Lu","year":"2021","unstructured":"Lu SY, Fu CL, Liang L, Yang B, Shen W, Wang QW et al (2021) miR-218\u20132 regulates cognitive functions in the hippocampus through complement component 3-dependent modulation of synaptic vesicle release. Proc Natl Acad Sci U S A. 118(14):e2021770118","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"31","key":"7840_CR55","doi-asserted-by":"crossref","first-page":"3551","DOI":"10.2174\/0929867321666140916120118","volume":"21","author":"H Blasco","year":"2014","unstructured":"Blasco H, Mavel S, Corcia P, Gordon PH (2014) The glutamate hypothesis in ALS: pathophysiology and drug development. Curr Med Chem 21(31):3551\u20133575","journal-title":"Curr Med Chem"},{"key":"7840_CR56","first-page":"611","volume":"10","author":"TW Tefera","year":"2016","unstructured":"Tefera TW, Borges K (2016) Metabolic dysfunctions in amyotrophic lateral sclerosis pathogenesis and potential metabolic treatments. Front Neurosci 10:611","journal-title":"Front Neurosci"},{"key":"7840_CR57","doi-asserted-by":"crossref","first-page":"114","DOI":"10.3389\/fnmol.2019.00114","volume":"12","author":"C Li","year":"2019","unstructured":"Li C, Wei Q, Gu X, Chen Y, Chen X, Cao B et al (2019) Decreased glycogenolysis by miR-338-3p promotes regional glycogen accumulation within the spinal cord of amyotrophic lateral sclerosis mice. Front Mol Neurosci 12:114","journal-title":"Front Mol Neurosci"},{"issue":"15","key":"7840_CR58","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1089\/neu.2012.2748","volume":"30","author":"JZ Hu","year":"2013","unstructured":"Hu JZ, Huang JH, Zeng L, Wang G, Cao M, Lu HB (2013) Anti-apoptotic effect of microRNA-21 after contusion spinal cord injury in rats. J Neurotrauma 30(15):1349\u20131360","journal-title":"J Neurotrauma"},{"issue":"6","key":"7840_CR59","doi-asserted-by":"crossref","first-page":"814","DOI":"10.3390\/genes12060814","volume":"12","author":"D Zhang","year":"2021","unstructured":"Zhang D, Ran J, Li J, Yu C, Cui Z, Amevor FK et al (2021) miR-21\u20135p Regulates the proliferation and differentiation of skeletal muscle satellite cells by targeting KLF3 in chicken. Genes (Basel). 12(6):814","journal-title":"Genes (Basel)."},{"issue":"10","key":"7840_CR60","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1038\/s12276-020-00513-7","volume":"52","author":"M Jo","year":"2020","unstructured":"Jo M, Lee S, Jeon YM, Kim S, Kwon Y, Kim HJ (2020) The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies. Exp Mol Med 52(10):1652\u20131662","journal-title":"Exp Mol Med"},{"issue":"11","key":"7840_CR61","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41583-019-0222-5","volume":"20","author":"B Wolozin","year":"2019","unstructured":"Wolozin B, Ivanov P (2019) Stress granules and neurodegeneration. Nat Rev Neurosci 20(11):649\u2013666","journal-title":"Nat Rev Neurosci"},{"issue":"3","key":"7840_CR62","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1007\/s00401-013-1088-7","volume":"125","author":"K Mori","year":"2013","unstructured":"Mori K, Lammich S, Mackenzie IR, Forne I, Zilow S, Kretzschmar H et al (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive\/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125(3):413\u2013423","journal-title":"Acta Neuropathol"},{"issue":"6","key":"7840_CR63","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1159\/000481258","volume":"17","author":"JA Fifita","year":"2017","unstructured":"Fifita JA, Zhang KY, Galper J, Williams KL, McCann EP, Hogan AL et al (2017) Genetic and pathological assessment of hnRNPA1, hnRNPA2\/B1, and hnRNPA3 in familial and sporadic amyotrophic lateral sclerosis. Neurodegener Dis 17(6):304\u2013312","journal-title":"Neurodegener Dis"},{"issue":"1","key":"7840_CR64","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s00401-019-02082-0","volume":"139","author":"Y Nihei","year":"2020","unstructured":"Nihei Y, Mori K, Werner G, Arzberger T, Zhou Q, Khosravi B et al (2020) Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3. Acta Neuropathol 139(1):99\u2013118","journal-title":"Acta Neuropathol"},{"key":"7840_CR65","doi-asserted-by":"crossref","first-page":"105585","DOI":"10.1016\/j.nbd.2021.105585","volume":"162","author":"H An","year":"2022","unstructured":"An H, Litscher G, Watanabe N, Wei W, Hashimoto T, Iwatsubo T et al (2022) ALS-linked cytoplasmic FUS assemblies are compositionally different from physiological stress granules and sequester hnRNPA3, a novel modifier of FUS toxicity. Neurobiol Dis 162:105585","journal-title":"Neurobiol Dis"},{"issue":"9","key":"7840_CR66","doi-asserted-by":"crossref","first-page":"e1601167","DOI":"10.1126\/sciadv.1601167","volume":"2","author":"M Yang","year":"2016","unstructured":"Yang M, Liang C, Swaminathan K, Herrlinger S, Lai F, Shiekhattar R et al (2016) A C9ORF72\/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Sci Adv 2(9):e1601167","journal-title":"Sci Adv"},{"issue":"7","key":"7840_CR67","doi-asserted-by":"crossref","first-page":"e3001344","DOI":"10.1371\/journal.pbio.3001344","volume":"19","author":"J Norpel","year":"2021","unstructured":"Norpel J, Cavadini S, Schenk AD, Graff-Meyer A, Hess D, Seebacher J et al (2021) Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture. PLoS Biol 19(7):e3001344","journal-title":"PLoS Biol"},{"issue":"23","key":"7840_CR68","doi-asserted-by":"crossref","first-page":"3940","DOI":"10.1093\/hmg\/ddz230","volume":"28","author":"C Liang","year":"2019","unstructured":"Liang C, Shao Q, Zhang W, Yang M, Chang Q, Chen R et al (2019) Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS\/FTD mouse models. Hum Mol Genet 28(23):3940\u20133953","journal-title":"Hum Mol Genet"},{"issue":"1","key":"7840_CR69","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1186\/s40478-020-00982-x","volume":"8","author":"JL Goodier","year":"2020","unstructured":"Goodier JL, Soares AO, Pereira GC, DeVine LR, Sanchez L, Cole RN et al (2020) C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease. Acta Neuropathol Commun 8(1):110","journal-title":"Acta Neuropathol Commun"},{"issue":"6","key":"7840_CR70","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/s41582-022-00653-6","volume":"18","author":"AN Coyne","year":"2022","unstructured":"Coyne AN, Rothstein JD (2022) Nuclear pore complexes - a doorway to neural injury in neurodegeneration. Nat Rev Neurol 18(6):348\u2013362","journal-title":"Nat Rev Neurol"},{"issue":"1","key":"7840_CR71","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/s41467-022-35724-1","volume":"14","author":"S Megat","year":"2023","unstructured":"Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO et al (2023) Integrative genetic analysis illuminates ALS heritability and identifies risk genes. Nat Commun 14(1):342","journal-title":"Nat Commun"},{"issue":"6","key":"7840_CR72","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1016\/j.neuron.2020.06.027","volume":"107","author":"AN Coyne","year":"2020","unstructured":"Coyne AN, Zaepfel BL, Hayes L, Fitchman B, Salzberg Y, Luo EC et al (2020) G(4)C(2) Repeat RNA initiates a POM121-mediated reduction in specific nucleoporins in C9orf72 ALS\/FTD. Neuron 107(6):1124\u201340 e11","journal-title":"Neuron"},{"issue":"2","key":"7840_CR73","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/s41593-017-0047-3","volume":"21","author":"CC Chou","year":"2018","unstructured":"Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F et al (2018) TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS\/FTD. Nat Neurosci 21(2):228\u2013239","journal-title":"Nat Neurosci"},{"issue":"1","key":"7840_CR74","doi-asserted-by":"crossref","first-page":"5580","DOI":"10.1038\/s41467-020-19396-3","volume":"11","author":"PT Lee","year":"2020","unstructured":"Lee PT, Lievens JC, Wang SM, Chuang JY, Khalil B, Wu HE et al (2020) Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS\/FTD models. Nat Commun 11(1):5580","journal-title":"Nat Commun"},{"issue":"12","key":"7840_CR75","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.15252\/emmm.201606403","volume":"8","author":"S Watanabe","year":"2016","unstructured":"Watanabe S, Ilieva H, Tamada H, Nomura H, Komine O, Endo F et al (2016) Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS. EMBO Mol Med 8(12):1421\u20131437","journal-title":"EMBO Mol Med"},{"key":"7840_CR76","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.neuroscience.2017.07.012","volume":"359","author":"V Tadic","year":"2017","unstructured":"Tadic V, Malci A, Goldhammer N, Stubendorff B, Sengupta S, Prell T et al (2017) Sigma 1 receptor activation modifies intracellular calcium exchange in the G93A(hSOD1) ALS model. Neuroscience 359:105\u2013118","journal-title":"Neuroscience"},{"key":"7840_CR77","doi-asserted-by":"crossref","first-page":"780588","DOI":"10.3389\/fphar.2021.780588","volume":"12","author":"N Gaja-Capdevila","year":"2021","unstructured":"Gaja-Capdevila N, Hernandez N, Navarro X, Herrando-Grabulosa M (2021) Sigma-1 Receptor is a Pharmacological Target to Promote Neuroprotection in the SOD1(G93A) ALS Mice. Front Pharmacol 12:780588","journal-title":"Front Pharmacol"},{"issue":"22","key":"7840_CR78","doi-asserted-by":"crossref","first-page":"3159","DOI":"10.1038\/sj.onc.1210409","volume":"26","author":"BD Cuevas","year":"2007","unstructured":"Cuevas BD, Abell AN, Johnson GL (2007) Role of mitogen-activated protein kinase kinase kinases in signal integration. Oncogene 26(22):3159\u20133171","journal-title":"Oncogene"},{"issue":"4","key":"7840_CR79","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/pro.4039","volume":"30","author":"GS Kumar","year":"2021","unstructured":"Kumar GS, Page R, Peti W (2021) The interaction of p38 with its upstream kinase MKK6. Protein Sci 30(4):908\u2013913","journal-title":"Protein Sci"},{"issue":"15","key":"7840_CR80","doi-asserted-by":"crossref","first-page":"6007","DOI":"10.1073\/pnas.0508774103","volume":"103","author":"C Raoul","year":"2006","unstructured":"Raoul C, Buhler E, Sadeghi C, Jacquier A, Aebischer P, Pettmann B et al (2006) Chronic activation in presymptomatic amyotrophic lateral sclerosis (ALS) mice of a feedback loop involving Fas, Daxx, and FasL. Proc Natl Acad Sci U S A 103(15):6007\u20136012","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"7840_CR81","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/s41598-017-00091-1","volume":"7","author":"RR Sama","year":"2017","unstructured":"Sama RR, Fallini C, Gatto R, McKeon JE, Song Y, Rotunno MS et al (2017) ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation. Sci Rep 7(1):115","journal-title":"Sci Rep"},{"issue":"4","key":"7840_CR82","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1021\/acschemneuro.7b00297","volume":"9","author":"K Chen","year":"2018","unstructured":"Chen K, Bennett SA, Rana N, Yousuf H, Said M, Taaseen S et al (2018) Neurodegenerative disease proteinopathies are connected to distinct histone post-translational modification landscapes. ACS Chem Neurosci 9(4):838\u2013848","journal-title":"ACS Chem Neurosci"},{"key":"7840_CR83","doi-asserted-by":"crossref","first-page":"40474","DOI":"10.1038\/srep40474","volume":"7","author":"MH Jun","year":"2017","unstructured":"Jun MH, Ryu HH, Jun YW, Liu T, Li Y, Lim CS et al (2017) Sequestration of PRMT1 and Nd1-L mRNA into ALS-linked FUS mutant R521C-positive aggregates contributes to neurite degeneration upon oxidative stress. Sci Rep 7:40474","journal-title":"Sci Rep"},{"issue":"1","key":"7840_CR84","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13148-020-0816-9","volume":"12","author":"N Jury","year":"2020","unstructured":"Jury N, Abarzua S, Diaz I, Guerra MV, Ampuero E, Cubillos P et al (2020) Widespread loss of the silencing epigenetic mark H3K9me3 in astrocytes and neurons along with hippocampal-dependent cognitive impairment in C9orf72 BAC transgenic mice. Clin Epigenetics 12(1):32","journal-title":"Clin Epigenetics"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07840-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-024-07840-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07840-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T17:47:37Z","timestamp":1742320057000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-024-07840-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,21]]},"references-count":84,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["7840"],"URL":"https:\/\/doi.org\/10.1007\/s10072-024-07840-x","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,21]]},"assertion":[{"value":"30 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human ethics and consent to participate"}},{"value":"We confirm that institutional review board approval and patient consent were not required for this secondary analysis, as it utilized previously collected, anonymized data. Additionally, we have reviewed the Journal's guidelines on ethical publication practices and affirm that this study complies with those standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and\u00a0informed consent"}},{"value":"The authors confirm that there are no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}