A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 (GUCA1A) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

Peshenko Igor V.; Cideciyan Artur V.; Sumaroka Alexander; Olshevskaya Elena V.; Scholten Alexander; Flick Maximilian; Koch Karl-Wilhelm; Jacobson Samuel G.; Dizhoor Alexander M.

首页> 外文期刊>Investigative ophthalmology & visual science >A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 (GUCA1A) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

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A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 (GUCA1A) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

机译：一种新型突变，GLY86ARG，在钙传感器蛋白GCAP1（GUCA1A）中改变了视网膜冠状阴性环酶的调节并导致显性锥杆变性

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来源
《Investigative ophthalmology & visual science》 |2018年第9期|共3页
作者
Peshenko Igor V.; Cideciyan Artur V.; Sumaroka Alexander; Olshevskaya Elena V.; Scholten Alexander; Flick Maximilian; Koch Karl-Wilhelm; Jacobson Samuel G.; Dizhoor Alexander M.;
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作者单位

Salus Univ Penn Coll Optometry Elkins Pk PA USA;

Univ Penn Dept Ophthalmol Philadelphia PA 19104 USA;

Univ Penn Dept Ophthalmol Philadelphia PA 19104 USA;

Salus Univ Penn Coll Optometry Elkins Pk PA USA;

Carl von Ossietzky Univ Oldenburg Dept Neurosci Oldenburg Germany;

Carl von Ossietzky Univ Oldenburg Dept Neurosci Oldenburg Germany;

Carl von Ossietzky Univ Oldenburg Dept Neurosci Oldenburg Germany;

Univ Penn Dept Ophthalmol Philadelphia PA 19104 USA;

Salus Univ Penn Coll Optometry Elkins Pk PA USA;

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正文语种 eng
中图分类眼科学;
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1. A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 (GUCA1A) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration [J] . Peshenko Igor V., Cideciyan Artur V., Sumaroka Alexander, Investigative ophthalmology & visual science . 2018,第9期

机译：一种新型突变，GLY86ARG，在钙传感器蛋白GCAP1（GUCA1A）中改变了视网膜冠状阴性环酶的调节并导致显性锥杆变性
2. A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 (GUCA1A) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration [J] . Peshenko Igor V., Cideciyan Artur V., Sumaroka Alexander, Investigative ophthalmology & visual science . 2018,第9期

机译：一种新型突变，GLY86ARG，在钙传感器蛋白GCAP1（GUCA1A）中改变了视网膜冠状阴性环酶的调节并导致显性锥杆变性
3. Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase [J] . Igor V.Peshenko, Elena V.Olshevskaya, Alexander M.Dizhoor The Journal of biological chemistry . 2021,第4期

机译：视网膜退化-3蛋白在表达人视网膜冠酶的显性突变的转基因小鼠中衰减光感受器变性
4. RNA interference gene therapy for dominant photoreceptor degeneration disease in mouse models expressing mutant guanylate cyclase-activating protein 1 [D] . Jiang, Li 2010

机译：RNA干扰基因治疗表达突变鸟苷酸环化酶激活蛋白1的小鼠模型中的显性光感受器变性疾病
5. A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration [O] . Igor V. Peshenko, Artur V. Cideciyan, Alexander Sumaroka, 2019

机译：钙传感器蛋白GCAP1中的G86R突变会改变视网膜鸟苷酸环化酶的调节并导致显性圆锥棒变性
6. A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration [O] . Igor V. Peshenko, Artur V. Cideciyan, Alexander Sumaroka, 2019

机译：钙传感器蛋白GCAP1中的G86R突变改变视网膜瓜亚菌环酶的调节，并导致显性锥形杆变性

A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 (GUCA1A) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

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