Preferred Label : Antisense Oligonucleotide QR-313;
NCIt definition : A twenty-one nucleotide-containing antisense oligonucleotide (AON) with potential
use in the treatment of recessive dystrophic epidermolysis bullosa (RDEB) due to mutations
in exon 73 of the COL7A1 gene. Upon topical administration, QR-313 hybridizes to a
specific sequence in COL7A1 pre-mRNA, resulting in exclusion of exon 73 from mRNA
and translation of a functional type VII collagen protein. This may restore functionality
of integument anchoring fibrils, prevent blistering, and improve wound healing in
patients with DEB. Type VII collagen is a major component of anchoring fibrils, attachment
structures that mediate dermal-epidermal adherence in human skin. DEB is an inherited
mechano-bullous disorder caused by mutations in the COL7A1 gene, which lead to perturbations
in anchoring fibrils.;
Molecule name : QR 313; QR-313;
NCI Metathesaurus CUI : CL971000;
Origin ID : C162452;
UMLS CUI : C5206565;
Semantic type(s)
- concept_is_in_subset
- has_target
