Loss of ABCA4 Function And Altered Lipidomic of Retinal Pigment Epithelium: A New Link To Stargardt Pathogenesis

被引：0
|
作者：
Farnoodian-Tedrick, Mitra [1 ]
Barone, Francesca [1 ]
Boyle, Marisa [2 ]
Bose, Devika [1 ]
Jun, Bokkyoo [3 ]
Do, Khanh [3 ]
Gordon, William C. [3 ]
Guerin, Marie-Audrey Kautzmann [3 ]
Bazan, Nicolas G. [3 ]
Bharti, Kapil [1 ]
机构：
[1] NIH, Ocular Stem Cell & Translat Res Sect, Bldg 10, Bethesda, MD 20892 USA
[2] NEI, OGVFB, Bethesda, MD 20892 USA
[3] LSU Hlth New Orleans, Sch Med, Neurosci Ctr Excellence, New Orleans, LA USA
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2021年 / 62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：
2234
引用
收藏
页数：4
相关论文
共 50 条
  • [31] Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease
    Xu, Tongzhou
    Molday, Laurie L.
    Molday, Robert S.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2023, 299 (05)
  • [32] Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids, retinal pigment epithelium, and retrospective clinical data
    Burnight, Erin
    Cranston, Cathryn
    Daggett, Heather
    Mullins, Janet
    Stone, Edwin
    Tucker, Budd
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [33] Exon Editing of ABCA4 rNA in Human Retinal Explants and Non-Human Primate Retina for the Treatment of Stargardt Disease
    Cheng, Ting-Wen
    Noma, Akiko
    Bachmann, John
    Cormier, Tayla
    Manokaran, Sangeetha
    Conor, Delaney
    Faulkner, Jim
    Nelson, Justin
    Olshaw, Brian
    Thresher, Jason
    Wu, Dennis
    Doi, Akiko
    Wager, Carrie
    Ehlers, Michael
    Bell, Robert
    MOLECULAR THERAPY, 2024, 32 (04) : 355 - 356
  • [34] Insights into the pathogenesis of Stargardt disease associated with splicing mutation c.5714+5G&gtA in ABCA4 gene
    Sajovic, Jana
    Meglic, Andrej
    Corradi, Zelia
    Khan, Mubeen
    Cremers, Frans F. M.
    Dhaenens, Claire-Marie
    Vidmar, Martina Jarc
    Glavac, Damjan
    Maver, Ales
    Volk, Marija
    Peterlin, Borut
    Hawlina, Marko
    Fakin, Ana
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 139 - 139
  • [35] Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy
    Piccardi, Marco
    Fadda, Antonello
    Martelli, Francesco
    Marangoni, Dario
    Magli, Adriano
    Minnella, Angelo M.
    Bertelli, Matteo
    Di Marco, Stefano
    Bisti, Silvia
    Falsini, Benedetto
    NUTRIENTS, 2019, 11 (10)
  • [36] Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter involved in the visual cycle and Stargardt disease
    Xu, Tongzhou
    Molday, Laurie
    Molday, Robert
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [37] Loss of Retinal Function and Pigment Epithelium Changes in a Patient with Common Variable Immunodeficiency
    Halborg, Jakob
    Sorensen, Torben L.
    CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE, 2012, 2012
  • [38] New trans-modifier genes in the most common monogenic eye disorder, ABCA4/Stargardt disease.
    Zernant, Jana
    Lee, Winston
    Nagasaki, Takayuki
    Su, Pei-Yin
    Tsang, Stephen
    Allikmets, Rando
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [39] Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
    Bauwens, M.
    Naessens, S.
    Van Cauwenbergh, C.
    Van Laethem, T.
    De Jaegere, S.
    Balikova, I.
    Sznajer, Y.
    De Zaeytijd, J.
    Leroy, B. P.
    De Baere, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 42 - 43
  • [40] Age-related global histone loss and altered histone acetylation in retinal pigment epithelium
    Dubey, Sushil
    Dubey, Rashmi
    Jung, Kyung
    Prajapati, Subhash
    Tian, Wenjian
    Kleinman, Mark
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
12345