{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T19:29:01Z","timestamp":1778182141774,"version":"3.51.4"},"reference-count":45,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T00:00:00Z","timestamp":1637884800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004543","name":"China Scholarship Council","doi-asserted-by":"publisher","award":["CSC202008300001"],"award-info":[{"award-number":["CSC202008300001"]}],"id":[{"id":"10.13039\/501100004543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["13\/IA\/1962"],"award-info":[{"award-number":["13\/IA\/1962"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["19\/FFP\/6522"],"award-info":[{"award-number":["19\/FFP\/6522"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004242","name":"Princess Nourah bint Abdulrahman University","doi-asserted-by":"publisher","award":["IRJN1502"],"award-info":[{"award-number":["IRJN1502"]}],"id":[{"id":"10.13039\/501100004242","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutations in the COL7A1 gene that encodes type VII collagen (C7). The development of an efficient gene replacement strategy for RDEB is mainly hindered by the lack of vectors able to encapsulate and transfect the large cDNA size of this gene. To address this problem, our group has opted to use polymeric-based non-viral delivery systems and minicircle DNA. With this approach, safety is improved by avoiding the usage of viruses, the absence of bacterial backbone, and the replacement of the control viral cytomegalovirus (CMV) promoter of the gene with human promoters. All the promoters showed impressive C7 expression in RDEB skin cells, with eukaryotic translation elongation factor 1 \u03b1 (EF1\u03b1) promoter producing higher C7 expression levels than CMV following minicircle induction, and COL7A1 tissue-specific promoter (C7P) generating C7 levels similar to normal human epidermal keratinocytes. The improved system developed here has a high potential for use as a non-viral topical treatment to restore C7 in RDEB patients efficiently and safely, and to be adapted to other genetic conditions.<\/jats:p>","DOI":"10.3390\/ijms222312774","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T23:22:28Z","timestamp":1638314548000},"page":"12774","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa"],"prefix":"10.3390","volume":"22","author":[{"given":"Xianqing","family":"Wang","sequence":"first","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9646-5683","authenticated-orcid":false,"given":"Fatma","family":"Alshehri","sequence":"additional","affiliation":[{"name":"College of Science, Princess Nourah Bint Abdulrahman University, Riyadh 11671, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dar\u00edo","family":"Manzanares","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinghao","family":"Li","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6533-4974","authenticated-orcid":false,"given":"Zhonglei","family":"He","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bei","family":"Qiu","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Zeng","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"},{"name":"Department of Dermatology, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigen","family":"A","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9557-1388","authenticated-orcid":false,"given":"Irene","family":"Lara-S\u00e1ez","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5053-0611","authenticated-orcid":false,"given":"Wenxin","family":"Wang","sequence":"additional","affiliation":[{"name":"Charles Institute of Dermatology, School of Medicine, University College Dublin, D04 V1W8 Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B","article-title":"Molecular Basis of Dystrophic Epidermolysis Bullosa: Mutations in the Type VII Collagen Gene (COL7A1)","volume":"10","author":"Pulkkinen","year":"1997","journal-title":"Hum. 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