Gene augmentation in FAM161A ciliopathy: Toward functional vision rescue.
作者信息
Sahel José-Alain, Marazova Katia, Dalkara Deniz
机构信息
Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France; National Eye Hospital Quinze-Vingts, 75012 Paris, France; Hôpital Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.
Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
出版信息
Mol Ther. 2023 Oct 4;31(10):2820-2822. doi: 10.1016/j.ymthe.2023.09.005. Epub 2023 Sep 19.
Abstract
摘要
相似文献
1
Gene augmentation in FAM161A ciliopathy: Toward functional vision rescue.FAM161A 纤毛病中的基因增强：迈向功能性视力恢复
Mol Ther. 2023 Oct 4;31(10):2820-2822. doi: 10.1016/j.ymthe.2023.09.005. Epub 2023 Sep 19.
2
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.FAM161A，一种新的中心体-纤毛蛋白，与常染色体隐性遗传视网膜色素变性有关。
Adv Exp Med Biol. 2014;801:185-90. doi: 10.1007/978-1-4614-3209-8_24.
3
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.基因增强疗法可减轻 Fam161a 型视色素变性敲除小鼠模型的视网膜变性。
Mol Ther. 2023 Oct 4;31(10):2948-2961. doi: 10.1016/j.ymthe.2023.08.011. Epub 2023 Aug 14.
4
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.FAM161A 与视网膜色素变性有关，是纤毛-基体复合物的一个组成部分，与纤毛病相关蛋白相互作用。
Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.
5
Fine-tuning FAM161A gene augmentation therapy to restore retinal function.优化 FAM161A 基因增强疗法以恢复视网膜功能。
EMBO Mol Med. 2024 Apr;16(4):805-822. doi: 10.1038/s44321-024-00053-x. Epub 2024 Mar 19.
6
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.无意义突变导致 FAM161A 相关性常染色体隐性视网膜色素变性。
Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12.
7
Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa.视网膜色素变性小鼠模型的形态学和功能比较。
Adv Exp Med Biol. 2023;1415:365-370. doi: 10.1007/978-3-031-27681-1_53.
8
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.单体型分析揭示 FAM161A 的纯合突变是常染色体隐性遗传视网膜色素变性的致病原因。
Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12.
9
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.色素性视网膜炎 28 蛋白 FAM161A 是一种新型的纤毛蛋白，参与了分子间蛋白相互作用和微管的关联。
Hum Mol Genet. 2012 Nov 1;21(21):4573-86. doi: 10.1093/hmg/dds268. Epub 2012 Jul 12.
引用本文的文献
1
Exonic Short Interspersed Nuclear Element Insertion in Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd.外显子短散布核元件插入与英国牧羊犬常染色体隐性进行性视网膜萎缩有关。
Genes (Basel). 2024 Jul 20;15(7):952. doi: 10.3390/genes15070952.
本文引用的文献
1
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.基因增强疗法可减轻 Fam161a 型视色素变性敲除小鼠模型的视网膜变性。
Mol Ther. 2023 Oct 4;31(10):2948-2961. doi: 10.1016/j.ymthe.2023.08.011. Epub 2023 Aug 14.
2
Therapy with voretigene neparvovec. How to measure success?伏瑞替戈尼静脉输注治疗。如何衡量疗效？
Prog Retin Eye Res. 2023 Jan;92:101115. doi: 10.1016/j.preteyeres.2022.101115. Epub 2022 Sep 10.
3
A new mouse model for retinal degeneration due to Fam161a deficiency.由于 Fam161a 缺乏导致的视网膜变性的新小鼠模型。
Sci Rep. 2021 Jan 21;11(1):2030. doi: 10.1038/s41598-021-81414-1.
4
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.100 例 FAM161A 基因突变致视网膜色素变性患者的临床特征大型队列研究
Sci Rep. 2020 Sep 16;10(1):15156. doi: 10.1038/s41598-020-72028-0.
5
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).以色列遗传性视网膜疾病联合会（IIRDC）对以色列遗传性视网膜疾病进行的全国性基因分析。
Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15.
6
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.非综合征性视网膜色素变性在耶路撒冷地区高度流行，存在高频的奠基者突变。
Mol Vis. 2015 Jul 17;21:783-92. eCollection 2015.
7
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.FAM161A，一种新的中心体-纤毛蛋白，与常染色体隐性遗传视网膜色素变性有关。
Adv Exp Med Biol. 2014;801:185-90. doi: 10.1007/978-1-4614-3209-8_24.
8
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.FAM161A 与视网膜色素变性有关，是纤毛-基体复合物的一个组成部分，与纤毛病相关蛋白相互作用。
Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.
9
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.色素性视网膜炎 28 蛋白 FAM161A 是一种新型的纤毛蛋白，参与了分子间蛋白相互作用和微管的关联。
Hum Mol Genet. 2012 Nov 1;21(21):4573-86. doi: 10.1093/hmg/dds268. Epub 2012 Jul 12.
10
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.单体型分析揭示 FAM161A 的纯合突变是常染色体隐性遗传视网膜色素变性的致病原因。
Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12.
Zotero 插件