{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T15:38:32Z","timestamp":1791905912112,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,3,13]],"date-time":"2018-03-13T00:00:00Z","timestamp":1520899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Koeln Fortune Program\/Faculty of Medicine","award":["KF Nr 245\/2011"],"award-info":[{"award-number":["KF Nr 245\/2011"]}]},{"name":"Koeln Fortune Program\/Faculty of Medicine","award":["KF 172\/2013"],"award-info":[{"award-number":["KF 172\/2013"]}]}],"content-domain":{"domain":["analyticalsciencejournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Proteomics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant tubulointerstitial kidney disease associated to the <jats:italic>MUC1<\/jats:italic> gene (ADTKD\u2010MUC1; formerly MCKD1) belongs to a heterogeneous group of rare hereditary kidney diseases that is prototypically caused by frameshift mutations in the MUC1 repeat domain. The mutant MUC1 (insC) lacks the transmembrane domaine, exhibits aberant cellular topology, and hence might gain a function during the pathological process. To get insight into potential pathomechanisms we perform differential proteomics of extracellular vesicles shed by renal epithelia into the urine of patients. The study is based on three ADTKD patients and individual controls applying iTRAQ\/LC\u2013MS\/MS. A total of 796 proteins were identified across all biological and technical replicates, and 298 proteins were quantified. A proportion of 47 proteins were fold\u2010changed species. GO Term Enrichment analysis revealed proteins with significantly changed expression in ADTKD\u2010associated extracellular vesicles as vesicular transport\u2010associated proteins. Among these VTA1 is involved in the endosomal multivesicular body pathway associated with transport to lysosomes or export <jats:italic>via<\/jats:italic> exosomes. VTA1 is also claimed to play roles as a cofactor of the AAA ATPases VPS4A and VPS4B in the disassembly of ESCRT III. Protein interaction databases list VPS4B, CHMP2A, and IST1 as VTA1 binding partners. (Data are available via ProteomeXchange with identifier PXD008389.)<\/jats:p>","DOI":"10.1002\/pmic.201700456","type":"journal-article","created":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T08:32:53Z","timestamp":1518510773000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Autosomal Tubulointerstitial Kidney Disease\u2014MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells"],"prefix":"10.1002","volume":"18","author":[{"given":"Simon","family":"Staubach","sequence":"first","affiliation":[{"name":"Institute of Biochemistry II Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Wenzel","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo B.","family":"Beck","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus M.","family":"Rinschen","sequence":"additional","affiliation":[{"name":"Department II of Internal Medicine University of Cologne  Cologne Germany"},{"name":"Center for Molecular Medicine Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz\u2010Georg","family":"Hanisch","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry II Medical Faculty University of Cologne  Cologne Germany"},{"name":"Center for Molecular Medicine Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,13]]},"reference":[{"key":"e_1_2_5_1_1","unstructured":"McKusick\u2010Nathans Institute of Genetic Medicine Online Mendelian Inheritance in Man OMIM\u00ae.Johns Hopkins University Baltimore MD (assessed April 2017). 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