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The unknown impact of the allelic and gene dosage effects and fate of mutant uromodulin leaves open the gap between postulated gain\u2010of\u2010function mutations, end\u2010organ damage and disease progression in ADTKD. Based on two prevalent missense\n                    <jats:italic>UMOD<\/jats:italic>\n                    mutations with divergent disease progression, we generated\n                    <jats:italic>Umod<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>C171Y<\/jats:italic>\n                    <\/jats:sup>\n                    and\n                    <jats:italic>Umod<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R186S<\/jats:italic>\n                    <\/jats:sup>\n                    knock\u2010in mice that showed strong allelic and gene dosage effects on uromodulin aggregates and activation of ER stress and unfolded protein and immune responses, leading to variable kidney damage. Deletion of the wild\u2010type\n                    <jats:italic>Umod<\/jats:italic>\n                    allele in heterozygous\n                    <jats:italic>Umod<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R186S<\/jats:italic>\n                    <\/jats:sup>\n                    mice increased the formation of uromodulin aggregates and ER stress. Studies in kidney tubular cells confirmed differences in uromodulin aggregates, with activation of mutation\u2010specific quality control and clearance mechanisms. Enhancement of autophagy by starvation and mTORC1 inhibition decreased uromodulin aggregates. These studies substantiate the role of toxic aggregates as driving progression of ADTKD\u2010\n                    <jats:italic>UMOD<\/jats:italic>\n                    , relevant for therapeutic strategies to improve clearance of mutant uromodulin.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202318242","type":"journal-article","created":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:25:07Z","timestamp":1698373507000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3549-7796","authenticated-orcid":false,"given":"Guglielmo","family":"Schiano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9617-7438","authenticated-orcid":false,"given":"Jennifer","family":"Lake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8254-3505","authenticated-orcid":false,"given":"Marta","family":"Mariniello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5883-3951","authenticated-orcid":false,"given":"C\u00e9line","family":"Schaeffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Harvent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0544-7042","authenticated-orcid":false,"given":"Luca","family":"Rampoldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1178-7980","authenticated-orcid":false,"given":"Eric","family":"Olinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3744-4767","authenticated-orcid":false,"given":"Olivier","family":"Devuyst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,10,26]]},"reference":[{"key":"BFEMMM202318242_CR1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/s41586-021-04199-3","volume":"601","author":"D Arseni","year":"2022","unstructured":"Arseni D, Hasegawa M, Murzin AG, Kametani F, Arai M, Yoshida M, Ryskeldi\u2010Falcon B (2022) Structure of pathological TDP\u201043 filaments from ALS with FTLD. 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