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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.

DOI:10.1007/978-1-4614-0631-0_64
PMID:22183371
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3475158/
Abstract
摘要

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Biology of retinoschisin.视网膜分裂蛋白的生物学
Adv Exp Med Biol. 2012;723:513-8. doi: 10.1007/978-1-4614-0631-0_64.
2
Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function.玻璃体腔内注射腺相关病毒-RS1基因疗法在X连锁视网膜劈裂小鼠模型中的临床前剂量递增研究：剂量依赖性表达及视网膜结构与功能改善
Hum Gene Ther. 2016 May;27(5):376-89. doi: 10.1089/hum.2015.142.
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4
Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration.视网膜分裂蛋白基因治疗与Rs1h基因敲除小鼠的自然史：从视网膜变性中获得长期拯救。
Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3837-45. doi: 10.1167/iovs.07-0203.
5
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.
6
Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model.基于固体脂质纳米粒子的载体通过基因治疗治疗 X 连锁青少年性视网膜劈裂症：Rs1h 缺陷型小鼠模型中的体内方法。
J Control Release. 2015 Nov 10;217:273-83. doi: 10.1016/j.jconrel.2015.09.033. Epub 2015 Sep 21.
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Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse.在Rs1h基因敲除小鼠的光感受器、穆勒胶质细胞或所有视网膜细胞中进行视网膜分裂蛋白基因治疗。
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Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.X 连锁青年性视网膜劈裂症中突变和分泌的视网膜色素上皮衍生因子的发病机制。
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引用本文的文献

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Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.携带有 X 连锁性视网膜劈裂症 RS1(E72K)突变的视网膜类器官表现出感光器发育延迟，并可通过基因增强治疗得到挽救。
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Int J Mol Sci. 2023 Jun 3;24(11):9722. doi: 10.3390/ijms24119722.
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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.遗传性视网膜变性伴光感受器细胞丧失的小鼠模型。
Cells. 2020 Apr 10;9(4):931. doi: 10.3390/cells9040931.
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Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.视网膜分裂蛋白促进L型电压门控钙通道的功能。
Front Cell Neurosci. 2017 Aug 8;11:232. doi: 10.3389/fncel.2017.00232. eCollection 2017.
6
An ex vivo gene therapy approach in X-linked retinoschisis.X连锁视网膜劈裂症的一种离体基因治疗方法。
Mol Vis. 2016 Jun 24;22:718-33. eCollection 2016.
7
Retinal Gene Therapy: Current Progress and Future Prospects.视网膜基因治疗：当前进展与未来前景
Expert Rev Ophthalmol. 2015 Jun;10(3):281-299. doi: 10.1586/17469899.2015.1035711. Epub 2015 Apr 10.

本文引用的文献

1
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.
3
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.
4
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.
5
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.
6
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.
7
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.
8
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.
9
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
Invest Ophthalmol Vis Sci. 2008 Aug;49(8):3677-86. doi: 10.1167/iovs.07-1071.
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.