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In this review, we examine the structure and regulation of TDP-43, how these features influence its localization and functional activity, and how their disruption may contribute to disease. Among TDP-43\u2019s diverse functions, splicing repression of nonconserved RNA sequences termed cryptic exons has emerged as especially central to human disease. TDP-43 nuclear depletion and cytoplasmic aggregation are well-established pathological features in affected neurons and glia of neurodegenerative diseases, and accumulating evidence suggests that loss of TDP-43-mediated splicing repression occurs presymptomatically in disease. Advances in RNA-sequencing have enabled systematic identification of cryptic exon inclusion as a sensitive marker of TDP-43 dysfunction. Here, we synthesize current knowledge of TDP-43 biology and curate datasets from human tissues and experimental models, focusing on cryptic splicing to provide a resource for leveraging cryptic exon biology to better understand, detect, and target TDP-43 dysfunction.<\/jats:p>","DOI":"10.1186\/s13024-026-00944-2","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T05:05:20Z","timestamp":1778735120000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["TDP-43: [GU]-ardian of the transcriptome"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6440-7019","authenticated-orcid":false,"given":"Irika R.","family":"Sinha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6788-3707","authenticated-orcid":false,"given":"Abigail L.","family":"Atkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8941-4557","authenticated-orcid":false,"given":"Katherine E.","family":"Irwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1927-9729","authenticated-orcid":false,"given":"Jonathan P.","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8162-3274","authenticated-orcid":false,"given":"Philip C.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"issue":"6","key":"944_CR1","doi-asserted-by":"publisher","first-page":"3584","DOI":"10.1128\/jvi.69.6.3584-3596.1995","volume":"69","author":"SH Ou","year":"1995","unstructured":"Ou SH, Wu F, Harrich D, Garc\u00eda-Mart\u00ednez LF, Gaynor RB. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol. 1995;69(6):3584\u201396. https:\/\/doi.org\/10.1128\/jvi.69.6.3584-3596.1995.","journal-title":"J Virol"},{"issue":"1","key":"944_CR2","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1136\/jnnp-2020-322983","volume":"92","author":"EMJ de Boer","year":"2021","unstructured":"de Boer EMJ, Orie VK, Williams T, Baker MR, Oliveira HMD, Polvikoski T, et al. TDP-43 proteinopathies: a new wave of neurodegenerative diseases. J Neurol Neurosurg Psychiatry [Internet]. 2021;92(1):86\u201395. https:\/\/doi.org\/10.1136\/jnnp-2020-322983.","journal-title":"J Neurol, Neurosurg Psychiatry"},{"issue":"1","key":"944_CR3","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1186\/s12964-023-01336-5","volume":"21","author":"H Ke","year":"2023","unstructured":"Ke H, Liu K, Jiao B, Zhao L. Implications of TDP-43 in non-neuronal systems. 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