Biology of retinoschisin.
作者信息
Vijayasarathy Camasamudram, Ziccardi Lucia, Sieving Paul A
机构信息
Section for Translation Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Adv Exp Med Biol. 2012;723:513-8. doi: 10.1007/978-1-4614-0631-0_64.
Abstract
摘要
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本文引用的文献
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Tyrosinase is the modifier of retinoschisis in mice.酪氨酸酶可修饰小鼠的视网膜劈裂症。
Genetics. 2010 Dec;186(4):1337-44. doi: 10.1534/genetics.110.120840. Epub 2010 Sep 27.
2
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.导致 X 连锁性视网膜劈裂症（XLRS）疾病中视蛋白信号序列突变导致无蛋白产物的分子机制。
Hum Mutat. 2010 Nov;31(11):1251-60. doi: 10.1002/humu.21350.
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Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study.视锥视蛋白（RS1）在 Ca2+存在的情况下与带负电荷的脂质双层相互作用：原子力显微镜研究。
Biochemistry. 2010 Aug 24;49(33):7023-32. doi: 10.1021/bi1007029.
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Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.用分子建模的方法研究视锥视蛋白与从人类 X 连锁性视网膜劈裂症中发现的致病性突变的功能分析。
Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8.
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Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.在一项横断面家族研究中，由RS1 c354del1-ins18突变导致的进行性严重X连锁视网膜劈裂症中视网膜劈裂蛋白表达缺失。
Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5375-83. doi: 10.1167/iovs.09-3839. Epub 2009 May 27.
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Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse.AAV8 经玻璃体内递送导致 Rs1-KO 小鼠中的细胞类型特异性基因表达和视网膜修复。
Gene Ther. 2009 Jul;16(7):916-26. doi: 10.1038/gt.2009.61. Epub 2009 May 21.
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Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.匈牙利X连锁青少年视网膜劈裂症患者的临床和遗传学发现。
Mol Vis. 2008;14:2321-32. Epub 2008 Dec 12.
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Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.视网膜分裂蛋白，视网膜中L型电压门控钙通道的一种新结合伴侣。
J Biol Chem. 2009 Feb 6;284(6):3966-75. doi: 10.1074/jbc.M806333200. Epub 2008 Dec 11.
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Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery.视网膜劈裂敲除（Rs1-/y）小鼠视网膜中的突触病理学及rAAV-Rs1基因递送的修饰作用
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10
Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.晚期治疗对视网膜劈裂蛋白缺陷小鼠中腺相关病毒介导的光感受器细胞拯救中疾病进展的影响。
Mol Ther. 2008 Jun;16(6):1010-7. doi: 10.1038/mt.2008.57. Epub 2008 Mar 25.
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