Oligonucleotide-based splice correction of the ABCA4 c.5461-10T>C mutation in Stargardt disease type 1

被引：0
|
作者：
Dulla, Kalyan [1 ]
Yilmaz-Elis, Seda [1 ]
Miao, Jiayi [1 ]
Schmidt, Iris [1 ]
Schulkens, Iris [1 ]
Chan, Hee Lam [1 ]
Adamson, Peter S. [1 ]
机构：
[1] ProQR Therapeut, Leiden, Netherlands
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2018年 / 59卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
5315
引用
收藏
页数：2
相关论文
共 43 条
  • [21] Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease
    Suarez-Herrera, Nuria
    Garanto, Alejandro
    Collin, Rob W. J.
    NUCLEIC ACID THERAPEUTICS, 2024, 34 (02) : 73 - 82
  • [22] Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G > T and c.6079C > T mutations in ABCA4
    Jennings, Luke
    Zhang, Dan
    Chen, Shang-Chih
    Moon, Sang Yoon
    Lamey, Tina
    Thompson, Jennifer A.
    McLaren, Terri
    De Roach, John N.
    Chen, Fred K.
    McLenachan, Samuel
    STEM CELL RESEARCH, 2020, 48
  • [23] Towards clinical intervention for Stargardt disease using antisense oligonucleotides to rescue aberrant splicing caused by the prevalent ABCA4 c.768G>T variant
    Collin, Rob W. J.
    Bukkems, Femke
    Duijkers, Lonneke
    Tomkiewicz, Tomasz Z.
    Sarlea, Andrei
    Dominguez, Irene Vazquez
    Netea, Mihai G.
    Hoyng, Carel C. B.
    Garanto, Alex
    Karjosukarso, Dyah W.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [24] ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects
    Salameh, Manar
    Corradi, Zelia
    Khan, Mubeen
    Vincent, Ajoy
    Heon, Elise
    Hitti-Malin, Rebekkah
    AlSwaiti, Yahya
    Banin, Eyal
    Dhaenens, Claire-Marie
    Sharon, Dror
    AlTalbishi, Alaa
    Cremers, Frans
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
  • [25] The ABCA4 2588G > C Stargardt mutation:: Single origin and increasing frequency from South-West to North-East Europe
    Maugeri, A
    Flothmann, K
    Hemmrich, N
    Ingvast, S
    Jorge, P
    Paloma, E
    Patel, R
    Rozet, JM
    Tammur, J
    Testa, F
    Balcells, S
    Bird, AC
    Brunner, HG
    Hoyng, CB
    Metspalu, A
    Simonelli, F
    Allikmets, R
    Bhattacharya, SS
    D'Urso, M
    Gonzàlez-Duarte, R
    Kaplan, J
    Meerman, GJT
    Santoss, R
    Schwartz, M
    Van Camp, G
    Wadelius, C
    Weber, BHF
    Cremers, FPM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (03) : 197 - 203
  • [26] Functional characterisation of a novel splice mutation, c.7887+2T>A, associated with type 1 von Willebrand disease
    Cartwright, A.
    Webster, S. J.
    Jacobi, P. M.
    Hickson, N.
    Budde, U.
    Peake, I. R.
    Goodeve, A. C.
    Haberichter, S. L.
    Hampshire, D. J.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : 505 - 505
  • [27] Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
    Suarez-Herrera, Nuria
    Leijsten, Nico
    Albert, Silvia
    Bax, Nathalie M.
    Hoyng, Carel B.
    Cremers, Frans P. M.
    Garanto, Alejandro
    Collin, Rob W. J.
    STEM CELL RESEARCH, 2023, 73
  • [28] Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data
    D'Angelo, Rosalia
    Donato, Luigi
    Venza, Isabella
    Scimone, Concetta
    Aragona, Pasquale
    Sidoti, Antonina
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2017, 39 (04) : 1011 - 1020
  • [29] ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
    Corradi, Zelia
    Salameh, Manar
    Khan, Mubeen
    Heon, Elise
    Mishra, Ketan
    Hitti-Malin, Rebekkah J.
    AlSwaiti, Yahya
    Aslanian, Alice
    Banin, Eyal
    Brooks, Brian P.
    Zein, Wadih M.
    Hufnagel, Robert B.
    Roosing, Susanne
    Dhaenens, Claire-Marie
    Sharon, Dror
    Cremers, Frans P. M.
    AlTalbishi, Alaa
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (04)
  • [30] Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation
    Oren, Yifat S.
    Sinai, Michal Irony-Tur
    Golec, Anita
    Barchad-Avitzur, Ofra
    Mutyam, Venkateshwar
    Li, Yao
    Hong, Jeong
    Ozeri-Galai, Efrat
    Hatton, Aurelie
    Leibson, Chen
    Carmel, Liran
    Reiter, Joel
    Sorscher, Eric J.
    Wilton, Steve D.
    Kerem, Eitan
    Rowe, Steven M.
    Sermet-Gaudelus, Isabelle
    Kerem, Batsheva
    JOURNAL OF CYSTIC FIBROSIS, 2021, 20 (05) : 865 - 875
12345