Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

被引：0
|
作者：
Molday, Laurie [1 ]
Kaltak, Melita [2 ,3 ]
Blanco-Garavito, Rocio [4 ,5 ]
Dhaenens, Claire-Marie [6 ]
Souied, Eric [4 ,5 ]
Platenburg, Gerard [7 ]
Swildens, Jim [7 ]
Molday, Robert [1 ]
Cremers, Frans [2 ,3 ]
机构：
[1] Univ British Columbia, Biochem, Fac Med, Vancouver, BC, Canada
[2] Radboud Univ Nijmegen, Dept Human Genet, Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
[4] Paris Est Creteil Univ, Intercommunal Hosp Ctr, Dept Ophthalmol, Creteil, France
[5] Paris Est Creteil Univ, Henri Mondor Hosp, Dept Ophthalmol, Creteil, France
[6] Univ Lille, CHU Lille, Inserm, U1172,LilNCog Lille Neurosci & Cognit, Lille, France
[7] ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2023年 / 64卷 / 08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：
4499
引用
收藏
页数：3
相关论文
共 50 条
  • [1] Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
    Kaltak, Melita
    Blanco-Garavito, Rocio
    Molday, Laurie L.
    Dhaenens, Claire-Marie
    Souied, Eric E.
    Platenburg, Gerard
    Swildens, Jim
    Molday, Robert S.
    Cremers, Frans P. M.
    JOURNAL OF TRANSLATIONAL MEDICINE, 2023, 21 (01)
  • [2] Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
    Melita Kaltak
    Rocio Blanco-Garavito
    Laurie L. Molday
    Claire-Marie Dhaenens
    Eric E. Souied
    Gerard Platenburg
    Jim Swildens
    Robert S. Molday
    Frans P. M. Cremers
    Journal of Translational Medicine, 21
  • [3] 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)
  • [4] 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
  • [5] 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
  • [6] Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
    Kaltak, Melita
    Corradi, Zelia
    Collin, Rob
    Swildens, Jim
    Cremers, Frans
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [7] An ABCA4 genomic deletion in patients with Stargardt Disease
    Yatsenko, AN
    Shroyer, NF
    Lewis, RA
    Lupski, JR
    HUMAN MUTATION, 2003, 21 (06) : 636 - 644
  • [8] Rewriting ABCA4 RNA for the Treatment of Stargardt Disease
    Bell, Robert D.
    Slomovic, Shimyn
    Doi, Akiko
    Gray, Jesse
    Burkhart, Kirk Benjamin
    Krumbach, Rebekka
    Bachmann, John
    Bremer, Bennett
    Clemens, Adam
    Cormier, Tayla
    Delaney, Conor
    Fong, Lai Mung
    Liu, Xiaojin
    Matapurkar, Savita
    Meredith, Julia
    Nelson, Justin
    Noma, Akiko
    Pavis, Anika
    Peng, Lingtao
    Thresher, Jason
    Wu, Dennis
    Wager, Carrie
    Ehlers, Michael
    Subramanian, Romesh R.
    MOLECULAR THERAPY, 2023, 31 (04) : 189 - 189
  • [9] Analysis of the ABCA4 genomic locus in Stargardt disease
    Zernant, Jana
    Xie, Yajing
    Ayuso, Carmen
    Riveiro-Alvarez, Rosa
    Lopez-Martinez, Miguel-Angel
    Simonelli, Francesca
    Testa, Francesco
    Gorin, Michael B.
    Strom, Samuel P.
    Bertelsen, Mette
    Rosenberg, Thomas
    Boone, Philip M.
    Yuan, Bo
    Ayyagari, Radha
    Nagy, Peter L.
    Tsang, Stephen H.
    Gouras, Peter
    Collison, Frederick T.
    Lupski, James R.
    Fishman, Gerald A.
    Allikmets, Rando
    HUMAN MOLECULAR GENETICS, 2014, 23 (25) : 6797 - 6806
  • [10] Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
    Kaltak, Melita
    Corradi, Zelia
    Collin, Rob W. J.
    Swildens, Jim
    Cremers, Frans P. M.
    HUMAN MOLECULAR GENETICS, 2023, 32 (21) : 3078 - 3089
12345