Ontology highlight
ABSTRACT:
SUBMITTER: Kerns ML
PROVIDER: S-EPMC1964870 | biostudies-other | 2007 Sep
REPOSITORIES: biostudies-other
Kerns Michelle L ML DePianto Daryle D Dinkova-Kostova Albena T AT Talalay Paul P Coulombe Pierre A PA
Proceedings of the National Academy of Sciences of the United States of America 20070827 36
Epidermolysis bullosa simplex (EBS) is a rare inherited condition in which the epidermis loses its integrity after mechanical trauma. EBS is typified by the dysfunction of intermediate filaments in basal keratinocytes of epidermis. Most cases of EBS are due to mutations in the keratin 5 or 14 gene (K5 and K14), whose products copolymerize to form intermediate filaments in basal keratinocytes. Available treatments for this disorder are only palliative. Here we exploit functional redundancy within ...[more]