Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy

• Ngā kaituhi matua: Elena Marrosu (Author), Pierpaolo Ala (Author), Francesco Muntoni (Author), Haiyan Zhou (Author)
• Hōputu: Pukapuka
• I whakaputaina: Elsevier, 2017-09-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients. Gapmer antisense oligonucleotides (AONs) are usually us...