Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activ...
Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa
About this item
Full title
Author / Creator
Jover, Irene , Ramos, Maria C. , Escámez, María José , Lozoya, Estrella , Tormo, José R. , de Prado-Verdún, Diana , Mencía, Ángeles , Pont, Mercè , Puig, Carles , Larraufie, Marie-Helene , Gutiérrez-Caballero, Cristina , Reyes, Fernando , Trincado, Juan Luis , García-González, Vicente , Cerrato, Rosario , Andrés, Miriam , Crespo, Maribel , Vicente, Francisca , Godessart, Nuria , Genilloud, Olga , Larcher, Fernando and Nueda, Arsenio
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease caused by loss of function mutations in the gene coding for collagen VII (C7) due to deficient or absent C7 expression. This disrupts structural and functional skin architecture, leading to blistering, chronic wounds, inflammation, important systemic symptoms affecting the...
Alternative Titles
Full title
Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa
Authors, Artists and Contributors
Author / Creator
Ramos, Maria C.
Escámez, María José
Lozoya, Estrella
Tormo, José R.
de Prado-Verdún, Diana
Mencía, Ángeles
Pont, Mercè
Puig, Carles
Larraufie, Marie-Helene
Gutiérrez-Caballero, Cristina
Reyes, Fernando
Trincado, Juan Luis
García-González, Vicente
Cerrato, Rosario
Andrés, Miriam
Crespo, Maribel
Vicente, Francisca
Godessart, Nuria
Genilloud, Olga
Larcher, Fernando
Nueda, Arsenio
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ee74055582e04965b80153f4230568d8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ee74055582e04965b80153f4230568d8
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-67398-8