Splicing modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

被引:0
|
作者
Garanto, A. [1 ,2 ,7 ]
Tomkiewicz, T. Z. [2 ,6 ]
Suarez-Herrera, N. [2 ,6 ]
Khan, M. [2 ,6 ]
Sangermano, R. [2 ,6 ]
Bauwens, M. [3 ,4 ]
Naessens, S. [3 ,4 ]
De Baere, E. [3 ,4 ]
Cheetham, M. E. [5 ]
Cremers, F. P. M. [2 ,6 ]
Collin, R. W. J. [2 ,6 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
[3] Univ Ghent, Ctr Med Genet, Ghent, Belgium
[4] Ghent Univ Hosp, Ghent, Belgium
[5] UCL Inst Ophthalmol, London, England
[6] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
[7] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Nijmegen, Netherlands
关键词
D O I
暂无
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
P148
引用
收藏
页码:A74 / A74
页数:1
相关论文
共 50 条
  • [1] Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease
    Collin, Rob W. J.
    Khan, Mubeen
    Sangermano, Riccardo
    Naessens, Sarah
    Bauwens, Miriam
    Hoyng, Carel C. B.
    Coppieters, Frauke
    Albert, Silvia
    Cheetham, Michael E.
    De Baere, Elfride
    Cremers, Frans P.
    Garanto, Alex
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [2] QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease
    Kaltak, Melita
    de Bruijn, Petra
    van Leeuwen, Willemijn
    Platenburg, Gerard
    Cremers, Frans P. M.
    Collin, Rob W. J.
    Swildens, Jim
    SCIENTIFIC REPORTS, 2024, 14 (01)
  • [3] QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease
    Melita Kaltak
    Petra de Bruijn
    Willemijn van Leeuwen
    Gerard Platenburg
    Frans P. M. Cremers
    Rob W. J. Collin
    Jim Swildens
    Scientific Reports, 14
  • [4] Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 disease
    Zernant, Jana
    Lee, Winston
    Collison, Fred
    Fishman, Gerald A.
    Tsang, Stephen
    Allikmets, Rando
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [5] Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease
    Karjosukarso, Dyah W.
    Bukkems, Femke
    Duijkers, Lonneke
    Tomkiewicz, Tomasz Z.
    Kiefmann, Julia
    Sarlea, Andrei
    Bervoets, Sander
    Vazquez-Dominguez, Irene
    Molday, Laurie L.
    Molday, Robert S.
    Netea, Mihai G.
    Hoyng, Carel B.
    Garanto, Alejandro
    Collin, Rob W. J.
    COMMUNICATIONS MEDICINE, 2025, 5 (01):
  • [6] Gene Therapy for Stargardt Disease Associated with ABCA4 Gene
    Han, Zongchao
    Conley, Shannon M.
    Naash, Muna I.
    RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY, 2014, 801 : 719 - 724
  • [7] A model for predicting the likelihood of identifying ABCA4 mutations for Stargardt disease
    Huang, Jillian
    Zahid, Sarwar
    Branham, Kari E.
    Heckenlively, John R.
    Jayasundera, Thiran
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [8] ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE
    Klufas, Michael A.
    Tsui, Irena
    Sadda, Srinivas R.
    Hosseini, Hamid
    Schwartz, Steven D.
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2018, 38 (02): : 403 - 415
  • [9] Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
    Zhang, Jianping
    Qi, Anhui
    Wang, Xi
    Pan, Hong
    Mo, Haiming
    Huang, Jiwei
    Li, Honghui
    Chen, Zhenwen
    Wei, Meirong
    Wang, Binbin
    MOLECULAR VISION, 2016, 22 : 1514 - 1521
  • [10] ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa
    Fukui, T
    Yamamoto, S
    Nakano, K
    Tsujikawa, M
    Morimura, H
    Nishida, K
    Ohguro, N
    Fujikado, T
    Irifune, M
    Kuniyoshi, K
    Okada, AA
    Hirakata, A
    Miyake, Y
    Tano, Y
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 (09) : 2819 - 2824