{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T18:43:08Z","timestamp":1771008188469,"version":"3.50.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2013,10,3]],"date-time":"2013-10-03T00:00:00Z","timestamp":1380758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dominant diseases are single gene disorders occurring in the heterozygous state. The mutated allele exerts a dominant effect because it produces an abnormal polypeptide that interferes with the function of the normal allele product. Peptide Nucleic Acids (PNAs) offer a route for a potential therapy for dominant diseases by selectively silencing the allele carrying the dominant mutation. Here, we have synthesized and studied the properties of a 15-mer PNA fully complementary to the site of the c.5272-38T&amp;gt;A sequence variation, which identifies a recurrent mutant COL7A1 allele causing dominant dystrophic epidermolysis bullosa (DDEB), a mendelian disease characterized by skin blistering. The PNA was conjugated with four lysine residues at the C-terminus and a fluorescent probe at the N-terminus. Physico-chemical results proved the formation of a stable, selective PNA\/mutant-DNA heteroduplex in vitro. Intriguingly, when transfected into normal human fibroblasts, the PNA correctly localized in the cell nucleus. Our results open new therapeutic possibilities for patients with DDEB.<\/jats:p>\n                  <jats:p\/>","DOI":"10.1039\/c3mb70283a","type":"journal-article","created":{"date-parts":[[2013,10,3]],"date-time":"2013-10-03T05:33:29Z","timestamp":1380778409000},"page":"3166-3174","source":"Crossref","is-referenced-by-count":9,"title":["PNA as a potential modulator of\n                    <i>COL7A1<\/i>\n                    gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study"],"prefix":"10.1093","volume":"9","author":[{"given":"Jussara","family":"Amato","sequence":"first","affiliation":[{"name":"Department of Pharmacy, University of Naples \u201cFederico II\u201d a , via D. Montesano 49, 80131 Naples Italy giancola@unina.it"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco Ignazio","family":"Stellato","sequence":"additional","affiliation":[{"name":"Department of Chemical Sciences, University of Naples \u201cFederico II\u201d b , via Cintia, 80126 Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elio","family":"Pizzo","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Naples \u201cFederico II\u201d c , via Cintia, 80126 Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Petraccone","sequence":"additional","affiliation":[{"name":"Department of Chemical Sciences, University of Naples \u201cFederico II\u201d b , via Cintia, 80126 Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Oliviero","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, University of Naples \u201cFederico II\u201d a , via D. Montesano 49, 80131 Naples Italy giancola@unina.it"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Borbone","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, University of Naples \u201cFederico II\u201d a , via D. Montesano 49, 80131 Naples Italy giancola@unina.it"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gennaro","family":"Piccialli","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, University of Naples \u201cFederico II\u201d a , via D. Montesano 49, 80131 Naples Italy giancola@unina.it"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Orecchia","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS d , via dei Monti di Creta 104, 00167 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Bellei","sequence":"additional","affiliation":[{"name":"Laboratory of Cutaneous Physiopathology, San Gallicano Dermatologic Institute, IRCCS e , via Elio Chianesi 53, 00144 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Castiglia","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS d , via dei Monti di Creta 104, 00167 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Giancola","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, University of Naples \u201cFederico II\u201d a , via D. Montesano 49, 80131 Naples Italy giancola@unina.it"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,10,3]]},"reference":[{"key":"2026010813041664300_cit1","first-page":"pp. 3810\u20133897","volume-title":"Principle and practice of medical genetics","author":"Anton-Lamprecht","year":"2002"},{"key":"2026010813041664300_cit2","first-page":"797","volume":"49","author":"Ryynanen","year":"1991","journal-title":"Am. J. Human Genetics"},{"key":"2026010813041664300_cit3","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B","volume":"10","author":"Jarvikallio","year":"1997","journal-title":"Hum. Mutat."},{"key":"2026010813041664300_cit4","doi-asserted-by":"crossref","first-page":"30248","DOI":"10.1074\/jbc.M109.045294","volume":"284","author":"Fritsch","year":"2009","journal-title":"J. Biol. 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