日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene

用于了解RPE65基因中意义不明变异致病性的高通量检测方法

Azizzadeh Pormehr, Leila; Manian, Kannan Vrindavan; Cho, Ha Eun; Redmond, T Michael; Comander, Jason

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65

可诱导的两亲性α螺旋介导RPE65的亚细胞靶向和膜结合

Uppal, Sheetal; Liu, Tingting; Galvan, Emily; Gomez, Fatima; Tittley, Tishina; Poliakov, Eugenia; Gentleman, Susan; Redmond, T Michael

The Amphipathic Helix in Visual Cycle Proteins: A Review

视觉循环蛋白中的两亲性螺旋:综述

Uppal, Sheetal; Poliakov, Eugenia; Gentleman, Susan; Redmond, T Michael

Pretreatment of human retinal pigment epithelial cells with sterculic acid forestalls fenretinide-induced apoptosis

用环糊精酸预处理人视网膜色素上皮细胞可阻止芬瑞替尼诱导的细胞凋亡

William, Samuel; Duncan, Todd; Redmond, T Michael

Xanthophylls Modulate Palmitoylation of Mammalian β-Carotene Oxygenase 2

叶黄素调节哺乳动物β-胡萝卜素加氧酶2的棕榈酰化

Uppal, Sheetal; Dergunov, Sergey A; Zhang, Weiyu; Gentleman, Susan; Redmond, T Michael; Pinkhassik, Eugene; Poliakov, Eugenia

Palmitoylation of Metazoan Carotenoid Oxygenases.

后生动物类胡萝卜素加氧酶的棕榈酰化

Uppal Sheetal, Rogozin Igor B, Redmond T Michael, Poliakov Eugenia

Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases

后生动物类胡萝卜素裂解加氧酶的进化方面和酶学

Poliakov, Eugenia; Uppal, Sheetal; Rogozin, Igor B; Gentleman, Susan; Redmond, T Michael

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

体外诱变RPE65蛋白在基因治疗前验证突变致病性的应用

Yang, Unikora; Gentleman, Susan; Gai, Xiaowu; Gorin, Michael B; Borchert, Mark S; Lee, Thomas C; Villanueva, Adda; Koenekoop, Robert; Maguire, Albert M; Bennett, Jean; Redmond, T Michael; Nagiel, Aaron