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TTD\u2010associated mutations typically cause unstable mutant proteins involved in various steps of gene expression, severely reducing steady\u2010state mutant protein levels. However, to date, no such link to instability of gene\u2010expression factors for TTD\u2010associated mutations in\n                    <jats:italic>MPLKIP<\/jats:italic>\n                    \/\n                    <jats:italic>TTDN1<\/jats:italic>\n                    has been established. Here, we present seven additional TTD individuals with\n                    <jats:italic>MPLKIP<\/jats:italic>\n                    mutations from five consanguineous families, with a newly identified\n                    <jats:italic>MPLKIP<\/jats:italic>\n                    variant in one family. By mass spectrometry\u2010based interaction proteomics, we demonstrate that MPLKIP interacts with core splicing factors and the lariat debranching protein DBR1.\n                    <jats:italic>MPLKIP<\/jats:italic>\n                    \u2010deficient primary fibroblasts have reduced steady\u2010state DBR1 protein levels. Using Human Skin Equivalents (HSEs), we observed impaired keratinocyte differentiation associated with compromised splicing and eventually, an imbalanced proteome affecting skin development and, interestingly, also the immune system. Our data show that MPLKIP, through its DBR1 stabilizing role, is implicated in mRNA splicing, which is of particular importance in highly differentiated tissue.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202317973","type":"journal-article","created":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:02:12Z","timestamp":1696640532000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Trichothiodystrophy\u2010associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5779-1681","authenticated-orcid":false,"given":"Arjan F","family":"Theil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7990-910X","authenticated-orcid":false,"given":"Alex","family":"Pines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9963-5916","authenticated-orcid":false,"given":"Tu\u011fba","family":"Kalayci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M","family":"Heredia\u2010Genestar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Raams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion H","family":"Rietveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sriram","family":"Sridharan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine EJ","family":"Tanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaas W","family":"Mulder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0472-4826","authenticated-orcid":false,"given":"Nesimi","family":"B\u00fcy\u00fckbabani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8640-0176","authenticated-orcid":false,"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra O","family":"Uyguner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan HJ","family":"Hoeijmakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4417-5358","authenticated-orcid":false,"given":"Hannes","family":"Lans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen AA","family":"Demmers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"Pothof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8351-7715","authenticated-orcid":false,"given":"Abdoelwaheb","family":"El Ghalbzouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3616-734X","authenticated-orcid":false,"given":"Wim","family":"Vermeulen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,10,6]]},"reference":[{"key":"BFEMMM202317973_CR1","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/s41577-021-00538-7","volume":"21","author":"CA Akdis","year":"2021","unstructured":"Akdis CA (2021) Does the epithelial barrier hypothesis explain the increase in allergy, autoimmunity and other chronic conditions? 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