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

• मुख्य लेखकों: Kalyan Dulla (लेखक), Monica Aguila (लेखक), Amelia Lane (लेखक), Katarina Jovanovic (लेखक), David A. Parfitt (लेखक), Iris Schulkens (लेखक), Hee Lam Chan (लेखक), Iris Schmidt (लेखक), Wouter Beumer (लेखक), Lars Vorthoren (लेखक), Rob W.J. Collin (लेखक), Alejandro Garanto (लेखक), Lonneke Duijkers (लेखक), Anna Brugulat-Panes (लेखक), Ma'ayan Semo (लेखक), Anthony A. Vugler (लेखक), Patricia Biasutto (लेखक), Peter Adamson (लेखक), Michael E. Cheetham (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2018-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...