Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

Toms Maria; Hayes Matthew; Webster Andrew; Moosajee Mariya

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Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

机译：USH2A的丧失导致罗地糖蛋白酶错误展开和成人发病感光体变性在Zebrafish综合征的斑马鱼模型中

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来源
《Investigative ophthalmology & visual science》 |2018年第9期|共2页
作者
Toms Maria; Hayes Matthew; Webster Andrew; Moosajee Mariya;
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作者单位

UCL Inst Ophthalmol London England;

UCL Inst Ophthalmol London England;

UCL Inst Ophthalmol London England;

UCL Inst Ophthalmol London England;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
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1. Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome [J] . Toms Maria, Hayes Matthew, Webster Andrew, Investigative ophthalmology & visual science . 2018,第9期

机译：USH2A的丧失导致罗地糖蛋白酶错误展开和成人发病感光体变性在Zebrafish综合征的斑马鱼模型中
2. Targeted disruption of the endogenous zebrafish rhodopsin locus as models of rapid rod photoreceptor degeneration [J] . Christopher P. Zelinka, Mailin Sotolongo-Lopez, James M. Fadool Molecular vision . 2018,第1期

机译：内源性斑马鱼视紫红质基因座的有针对性的破坏作为快速杆感光细胞退化的模型。
3. QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups [J] . Adamson Peter, Chan Heelam, Turunen Janne, Investigative ophthalmology & visual science . 2017,第8期

机译：QRX-421，USH2A的外显子13中的反义寡核苷酸（AON）靶向突变，与映综合征2型中的视网膜炎，在患者成纤维细胞和患者衍生的视镜杯中的USH2A mRNA中有效
4. Imaging Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome: Results and Challenges [C] . J. Carroll, P. Godara, R.F. Cooper, 6th EOS topical meeting on visual and physiological optics . 2012

机译：视网膜色素变性和亚瑟氏综合征的成像感光器结构：结果和挑战。
5. Molecular and genetic studies characterizing the role of ninaG in chromophore biogenesis, role of rhodopsin in maintenance of photoreceptor cell structure, and genome-wide transcript changes during norpA retinal degeneration in Drosophila. [D] . Ahmad, Syed Tariq. 2005

机译：分子和遗传学研究表征了ninaG在发色团生物发生中的作用，视紫红质在维持感光细胞结构中的作用以及果蝇norpA视网膜变性期间全基因组转录物的变化。
6. Targeted disruption of the endogenous zebrafish rhodopsin locus as models of rapid rod photoreceptor degeneration [O] . Christopher P. Zelinka, Mailin Sotolongo-Lopez, James M. Fadool 2018

机译：有针对性的内源斑马鱼视紫红质基因座的破坏作为快速杆感光细胞退化的模型。
7. Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II [O] . van Wijk, Erwin, Pennings, Ronald J. E., te Brinke, Heleen, 2004

机译：鉴定51个新颖的2a型综合征综合征（USH2A）基因外显子，该基因编码多个保守的功能域，并且在II型2型综合征患者中发生突变

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Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

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