[HTML][HTML] Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII
A Fritsch, S Spassov, S Elfert, A Schlosser… - Journal of biological …, 2009 - ASBMB
Dominant-negative interference by glycine substitution mutations in the COL7A1 gene
causes dominant dystrophic epidermolysis bullosa (DDEB), a skin fragility disorder with
mechanically induced blistering. Although qualitative and quantitative alterations of the
COL7A1 gene product, collagen VII, underlie DDEB, the lack of direct correlation between
mutations and the clinical phenotype has rendered DDEB less amenable to therapeutic
targeting. To delineate the molecular mechanisms of DDEB, we used recombinant …
causes dominant dystrophic epidermolysis bullosa (DDEB), a skin fragility disorder with
mechanically induced blistering. Although qualitative and quantitative alterations of the
COL7A1 gene product, collagen VII, underlie DDEB, the lack of direct correlation between
mutations and the clinical phenotype has rendered DDEB less amenable to therapeutic
targeting. To delineate the molecular mechanisms of DDEB, we used recombinant …