{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T06:09:53Z","timestamp":1788934193238,"version":"build-2803163510"},"reference-count":405,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2020,11,26]],"date-time":"2020-11-26T00:00:00Z","timestamp":1606348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Biomedical research aims to understand the molecular mechanisms causing human diseases and to develop curative therapies. So far, these goals have been achieved for a small fraction of diseases, limiting factors being the availability, validity, and use of experimental models. Niemann\u2013Pick type C (NPC) is a prime example for a disease that lacks a curative therapy despite substantial breakthroughs. This rare, fatal, and autosomal-recessive disorder is caused by defects in NPC1 or NPC2. These ubiquitously expressed proteins help cholesterol exit from the endosomal\u2013lysosomal system. The dysfunction of either causes an aberrant accumulation of lipids with patients presenting a large range of disease onset, neurovisceral symptoms, and life span. Here, we note general aspects of experimental models, we describe the line-up used for NPC-related research and therapy development, and we provide an outlook on future topics.<\/jats:p>","DOI":"10.3390\/ijms21238979","type":"journal-article","created":{"date-parts":[[2020,11,26]],"date-time":"2020-11-26T09:04:15Z","timestamp":1606381455000},"page":"8979","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Understanding and Treating Niemann\u2013Pick Type C Disease: Models Matter"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2511-6168","authenticated-orcid":false,"given":"Valentina","family":"Pallottini","sequence":"first","affiliation":[{"name":"Biomedical and Technology Science Section, Department of Science, Roma Tre University, Viale Marconi 446, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7085-1431","authenticated-orcid":false,"given":"Frank W.","family":"Pfrieger","sequence":"additional","affiliation":[{"name":"Centre National de la Recherche Scientifique, Institut des Neurosciences Cellulaires et Int\u00e9gratives, Universit\u00e9 de Strasbourg, 8 All\u00e9e General Rouvillois, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/nrg3555","article-title":"Rare-disease genetics in the era of next-generation sequencing: Discovery to translation","volume":"14","author":"Boycott","year":"2013","journal-title":"Nat. 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