Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

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作者： Nuria,Suárez-Herrera ^[1] ; Iris B,Riswick ^[1] ; Irene,Vázquez-Domínguez ^[1] ; Lonneke,Duijkers ^[1] ; Dyah W,Karjosukarso ^[1] ; Davide,Piccolo ^[2] ; Miriam,Bauwens ^[3] ; Elfride,De Baere ^[3] ; Michael E,Cheetham ^[2] ; Alejandro,Garanto ^[4] ; Rob W J,Collin ^[5]

作者单位： Radboud University Medical Center, Department of Human Genetics, 6525GA Nijmegen, the Netherlands. ^[1] UCL Institute of Ophthalmology, London EC1V 9EL, UK. ^[2] Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium. ^[3] Radboud University Medical Center, Department of Human Genetics, 6525GA Nijmegen, the Netherlands; Radboud University Medical Center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen 6252GA, the Netherlands. ^[4] Radboud University Medical Center, Department of Human Genetics, 6525GA Nijmegen, the Netherlands. Electronic address: rob.collin@radboudumc.nl. ^[5]

关键词 AAV ABCA4 RNA therapy Stargardt disease U7snRNA antisense oligonucleotide inherited retinal disease patient-derived photoreceptor precursor cells splicing modulation

主题词人类(Humans);ATP结合匣式转运子(ATP-Binding Cassette Transporters);RNA剪接(RNA Splicing);突变(Mutation);光感受器细胞(Photoreceptor Cells)

DOI 10.1016/j.ymthe.2024.01.019

PMID 38243599

发布时间 2024-03-16

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