{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T04:22:39Z","timestamp":1782966159070,"version":"3.54.5"},"reference-count":138,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T00:00:00Z","timestamp":1672272000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Center of Transdisciplinary Neuroscience Rostock"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Niemann-Pick Type C1 (NPC1, MIM 257220) is a rare, progressive, lethal, inherited autosomal-recessive endolysosomal storage disease caused by mutations in the NPC1 leading to intracellular lipid storage. We analyzed mostly not jet known alterations of the weights of 14 different organs in the BALB\/cNctr-Npc1m1N\/-J Jackson Npc1 mice in female and male Npc1+\/+ and Npc1\u2212\/\u2212 mice under various treatment strategies. Mice were treated with (i) no therapy, (ii) vehicle injection, (iii) a combination of miglustat, allopregnanolone, and 2-hydroxypropyl-\u00df-cyclodextrin (HP\u00dfCD), (iv) miglustat, and (v) HP\u00dfCD alone starting at P7 and repeated weekly throughout life. The 12 respective male and female wild-type mice groups were evaluated in parallel. In total, 351 mice (176 Npc1+\/+, 175 Npc1\u2212\/\u2212) were dissected at P65. In both sexes, the body weights of None and Sham Npc1\u2212\/\u2212 mice were lower than those of respective Npc1+\/+ mice. The influence of the Npc1 mutation and\/or sex on the weights of various organs, however, differed considerably. In males, Npc1+\/+ and Npc1\u2212\/\u2212 mice had comparable absolute weights of lungs, spleen, and adrenal glands. In Npc1\u2212\/\u2212 mice, smaller weights of hearts, livers, kidneys, testes, vesicular, and scent glands were found. In female Npc1\u2212\/\u2212 mice, ovaries, and uteri were significantly smaller. In Npc1\u2212\/\u2212 mice, relative organ weights, i.e., normalized with body weights, were sex-specifically altered to different extents by the different therapies. The combination of miglustat, allopregnanolone, and the sterol chelator HP\u00dfCD partly normalized the weights of more organs than miglustat or HP\u00dfCD mono-therapies.<\/jats:p>","DOI":"10.3390\/ijms24010573","type":"journal-article","created":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T03:26:11Z","timestamp":1672370771000},"page":"573","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7631-9080","authenticated-orcid":false,"given":"Veronica","family":"Antipova","sequence":"first","affiliation":[{"name":"Institute of Anatomy, Rostock University Medical Center, D-18057 Rostock, Germany"},{"name":"Gottfried Schatz Research Center for Cell Signaling, Metabolism and Aging, Macroscopic and Clinical Anatomy, Medical University of Graz, A-8010 Graz, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa-Marie","family":"Steinhoff","sequence":"additional","affiliation":[{"name":"Institute of Anatomy, Rostock University Medical Center, D-18057 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7977-9093","authenticated-orcid":false,"given":"Carsten","family":"Holzmann","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Rostock University Medical Center, D-18057 Rostock, Germany"},{"name":"Centre of Transdisciplinary Neuroscience Rostock, D-18147 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"Medical Faculty, University of Rostock, D-18055 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Junior","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institute of Anatomy, Rostock University Medical Center, D-18057 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4538-877X","authenticated-orcid":false,"given":"Martin","family":"Witt","sequence":"additional","affiliation":[{"name":"Institute of Anatomy, Rostock University Medical Center, D-18057 Rostock, Germany"},{"name":"Department of Anatomy, Technische Universit\u00e4t Dresden, D-01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Wree","sequence":"additional","affiliation":[{"name":"Institute of Anatomy, Rostock University Medical Center, D-18057 Rostock, Germany"},{"name":"Centre of Transdisciplinary Neuroscience Rostock, D-18147 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e2147","DOI":"10.1038\/cddis.2016.16","article-title":"Necroptosis in Niemann\u2013Pick disease, type C1: A potential therapeutic target","volume":"7","author":"Cougnoux","year":"2016","journal-title":"Cell Death Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1194\/jlr.P000331","article-title":"The national niemann-pick type c1 disease database: Correlation of lipid profi les, mutations, and biochemical phenotypes","volume":"51","author":"Garver","year":"2010","journal-title":"J. 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