Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

• Main Authors: Kalyan Dulla (Author), Monica Aguila (Author), Amelia Lane (Author), Katarina Jovanovic (Author), David A. Parfitt (Author), Iris Schulkens (Author), Hee Lam Chan (Author), Iris Schmidt (Author), Wouter Beumer (Author), Lars Vorthoren (Author), Rob W.J. Collin (Author), Alejandro Garanto (Author), Lonneke Duijkers (Author), Anna Brugulat-Panes (Author), Ma'ayan Semo (Author), Anthony A. Vugler (Author), Patricia Biasutto (Author), Peter Adamson (Author), Michael E. Cheetham (Author)
• Format: Book
• Published: Elsevier, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy associated with mutations in CEP290. The deep intronic c.2991+1655A>G mutation in CEP290 is the most common mutation in LCA10 individuals and represents an ideal target for oligonucleotide therapeutics. Here, a pan...