{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:32:58Z","timestamp":1790548378503,"version":"4.1.0"},"reference-count":166,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T00:00:00Z","timestamp":1657843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005725","name":"CHDI Foundation","doi-asserted-by":"publisher","award":["na"],"award-info":[{"award-number":["na"]}],"id":[{"id":"10.13039\/100005725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>While blood\u2013brain barrier (BBB) dysfunction has been described in neurological disorders, including Huntington\u2019s disease (HD), it is not known if endothelial cells themselves are functionally compromised when promoting BBB dysfunction. Furthermore, the underlying mechanisms of BBB dysfunction remain elusive given the limitations with mouse models and post mortem tissue to identify primary deficits. We established models of BBB and undertook a transcriptome and functional analysis of human induced pluripotent stem cell (iPSC)-derived brain-like microvascular endothelial cells (iBMEC) from HD patients or unaffected controls. We demonstrated that HD-iBMECs have abnormalities in barrier properties, as well as in specific BBB functions such as receptor-mediated transcytosis.<\/jats:p>","DOI":"10.3390\/ijms23147813","type":"journal-article","created":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T22:57:06Z","timestamp":1658098626000},"page":"7813","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Modelling the Human Blood\u2013Brain Barrier in Huntington Disease"],"prefix":"10.3390","volume":"23","author":[{"given":"Domenico","family":"Vignone","sequence":"first","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odalys","family":"Gonzalez Paz","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Fini","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Cellucci","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3494-167X","authenticated-orcid":false,"given":"Giulio","family":"Auciello","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"Battista","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5083-5098","authenticated-orcid":false,"given":"Isabelle","family":"Gloaguen","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Fortuni","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Cariulo","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinod","family":"Khetarpal","sequence":"additional","affiliation":[{"name":"CHDI Management\/CHDI Foundation, 6080 Center Drive, Los Angeles, CA 90045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Dominguez","sequence":"additional","affiliation":[{"name":"CHDI Management\/CHDI Foundation, 6080 Center Drive, Los Angeles, CA 90045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0353-3577","authenticated-orcid":false,"given":"Ignacio","family":"Mu\u00f1oz-Sanju\u00e1n","sequence":"additional","affiliation":[{"name":"CHDI Management\/CHDI Foundation, 6080 Center Drive, Los Angeles, CA 90045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5211-6230","authenticated-orcid":false,"given":"Annalise","family":"Di Marco","sequence":"additional","affiliation":[{"name":"IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e1058464","DOI":"10.1080\/21675511.2015.1058464","article-title":"Huntington\u2019s disease is a multi-system disorder","volume":"3","author":"Mielcarek","year":"2015","journal-title":"Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e8025","DOI":"10.1371\/journal.pone.0008025","article-title":"Formation of Polyglutamine Inclusions in a Wide Range of Non-CNS Tissues in the HdhQ150 Knock-In Mouse Model of Huntington\u2019s Disease","volume":"4","author":"Moffitt","year":"2009","journal-title":"PLoS ONE"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.expneurol.2013.08.019","article-title":"Neurovascular abnormalities in humans and mice with Huntington\u2019s disease","volume":"250","author":"Lin","year":"2013","journal-title":"Exp. 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