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

Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase

利用计算动态活性位点映射技术揭示人酪氨酸酶底物识别和突变诱导功能障碍的机制

Dolinska, Monika B; Sergeev, Yuri V

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

NR6A1基因变异导致一种新型眼椎肾综合征

Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Ai Rawi, Ranya; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P

Age-Dependent Histone Deacetylase 3 Regulation by βA3/A1-Crystallin and Inositol Hexaphosphate in Retinal Pigmented Epithelial Cells Reveals a Novel Pathway in Age-Related Macular Degeneration.

视网膜色素上皮细胞中βA3/A1-晶状体蛋白和肌醇六磷酸对年龄依赖性组蛋白去乙酰化酶3的调控揭示了年龄相关性黄斑变性的一条新途径

Chatterjee Sujan, Ghosh Sayan, Sin Zachary, Babu Vishnu Suresh, Preval Loretta Viera, Davis Emily, Tran Nguyen, Bammidi Sridhar, Gautam Pooja, Hose Stacey, Sergeev Yuri, Flores-Bellver Miguel, Ritter Kevin, Jessen Henning J, Al Diri Issam, Sinha Debasish, Guha Prasun

Genetic mutations disrupt the coordinated mode of tyrosinase's intra-melanosomal domain

基因突变会破坏酪氨酸酶黑素体内结构域的协调模式。

Toay, Sarah; Sergeev, Yuri V

Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q

由双突变 R217Q/R402Q 引起的重组人酪氨酸酶不稳定

Toay, Sarah; Sheri, Narin; MacDonald, Ian; Sergeev, Yuri V

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation

安吡酮(4-氨基安替比林)是人酪氨酸酶的直接激动剂,具有治疗眼皮肤白化病和色素减退症的潜在疗效。

Dolinska, Monika B; Wang, Yuhong; Coussens, Nathan P; Kalaskar, Vijay K; Eraslan, Zuhal; Grondin, Samuel J; Bonica, Joseph; Toay, Sarah; Hall, Matthew D; Shen, Min; Boxer, Matthew; Chen, Qiuying; Gross, Steven S; Attarwala, Nabeel; Jittayasothorn, Yingyos; Alur, Ramakrishna P; Shukla, Dhyanam; Kee, Robin; DeYoung, Charles; Sha, Cuilee; Adams, David R; Loftus, Stacie; Cogliati, Tiziana; Sergeev, Yuri V; Zippin, Jonathan H; Brooks, Brian P

Genetic mutations disrupt the coordinated mode of tyrosinase intra-melanosomal domain

基因突变会破坏酪氨酸酶黑素体内结构域的协调模式。

Toay, Sarah; Sergeev, Yuri V

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L

人重组酪氨酸酶胞内黑素体结构域及其OCA1B相关突变体P406L的多底物活性分子建模

Dolinska, Monika B; Sergeev, Yuri V

Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning

将蛋白质稳定性与致病性联系起来:利用机器学习预测眼部蛋白质中单错义突变的临床意义

Majid, Iyad; Sergeev, Yuri V