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Impaired kidney function is among its clinical manifestations. To investigate HPS\u20101 renal involvement, we employed 1D\u2010gel\u2010LC\u2013MS\/MS and compared the protein composition of urinary extracellular vesicles (uEVs) from HPS\u20101 patients to normal control individuals. We identified 1029 proteins, 149 of which were altered in HPS\u20101 uEVs. Ingenuity Pathway Analysis revealed disruptions in mitochondrial function and the LXR\/RXR pathway that regulates lipid metabolism, which is supported by our novel\n                    <jats:italic>Hps1<\/jats:italic>\n                    knockout mouse. Serum concentration of the LXR\/RXR pathway protein ApoA1 in our patient cohort was positively correlated with kidney function (with the estimated glomerular filtration rate or eGFR). uEVs can be used to study epithelial cell protein trafficking in HPS\u20101 and may provide outcome measures for HPS\u20101 therapeutic interventions.\n                  <\/jats:p>","DOI":"10.1002\/1873-3468.15088","type":"journal-article","created":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T20:05:17Z","timestamp":1735589117000},"page":"1055-1074","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Insights into the renal pathophysiology in Hermansky\u2010Pudlak syndrome\u20101 from urinary extracellular vesicle proteomics and a new mouse model"],"prefix":"10.1002","volume":"599","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7907-924X","authenticated-orcid":false,"given":"Dawn M.","family":"Maynard","sequence":"first","affiliation":[{"name":"Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI National Institutes of Health  Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernadette R.","family":"Gochuico","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI National Institutes of Health  Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadass","family":"Pri Chen","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI National Institutes of Health  Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher K. 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