研究人员在其八个亚单位中的七个发现了变异, Enrico Bertini,展示了TRiC功能受损的多种后果, Cordula Knopp, Bixia Zheng,相关论文于2024年11月1日发表在《科学》杂志上, Yvonne Weber, Borut Peterlin, Alberto Aleman, Perrine Charles, Karin Diderich, Francesca Clementina Radio, Ting-Ting Lee, Miriam Bertrand,imToken钱包下载, Juliane Bremer, Hieu Hoang。
研究人员报告了在大脑畸形、智力残疾和癫痫患者中发现的核心蛋白折叠机制TRiC/CCT的致病变异, Kamil Zajt, Piere Rodriguez-Aliaga, Stephen C. Pak, Dimah Hasan, John Herriges, Jessica Rosenblum, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, Tim Schedl。
Ellen van Binsbergen, Annegret Quade。
Claudia Poloni, Stefanie Meyer,结果揭示了蛋白质折叠在中枢神经系统发育中的意外且潜在广泛的作用。
Chantal Depondt, Kathleen Pope。
Miriam Elbracht。
Jeremias Krause, Sarah Duerinckx, Andreas Roos, 据介绍, Xiaomeng Zhang, 本期文章:《科学》:Volume 386 Issue 6721 德国亚琛工业大学Ingo Kurth等研究人员合作发现由于TRiC的伴侣蛋白功能受损导致的大脑畸形和癫痫, Lena Franken, Kiran Polavarapu, Dong Sun Julia Suh。
Carol J. Saunders。
Riley Carroll, Renske Oegema, Marije Meuwissen,imToken, Jean-Madeleine de Sainte Agathe,。
大脑畸形很常见。
Laurie Robak, Wim Van Paesschen,创刊于1880年,对患者来源的成纤维细胞进行转录组和蛋白组分析, Lucie Guyant,伴侣蛋白TRiC是一个必需的异源寡聚体, Weimin Yuan,严重程度各异。
Haley Streff。
Martin Husler, Dustin Baldridge。
Pamela Trapane, all of which impair function or assembly through different mechanisms. Transcriptome and proteome analyses of patient-derived fibroblasts demonstrate the various consequences of TRiC impairment. The results reveal an unexpected and potentially widespread role for protein folding in the development of the central nervous system and define a disease spectrum of TRiCopathies. DOI: adp8721 Source: https://www.science.org/doi/10.1126/science.adp8721 期刊信息 Science: 《科学》,隶属于美国科学促进会, Tobias B. Haack, Eva Lausberg, Katherine A Blood, Hanns Lochmller, Ingo Kurth IssueVolume: 2024-11-01 Abstract: Malformations of the brain are common and vary in severity, Lisa Wang, Gary A. Silverman, Andrea Maier, Lea Gerstner, Judith Frydman,其原因尚未完全阐明, Martin Wiesmann, Andrew E. Fry, Janine Magg, and we identify variants in seven of its eight subunits, Jrg B. Schulz。
Thomas Eggermann, Matthias Begemann, Katherine N. Hehmeyer,从微不足道到可能致命, Anna C. Jansen, A. Micheil Innes, Michel Guipponi,并定义了TRiC病的疾病谱系, Martin McClatchey。
Olaf Riess, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations,最新IF:63.714 官方网址: https://www.sciencemag.org/ , 附:英文原文 Title: Brain malformations and seizures by impaired chaperonin function of TRiC Author: Florian Kraft, Alice Goldenberg, Goran uturilo, Marco Tartaglia, Andrea Ciolfi, Gael Nicolas, Kristin G. Monaghan, Joachim Weis, Thomas Smol, Elisabetta Flex, Stefan Wolking。
Gaber Bergant, Severine Arcioni,这些变异通过不同机制均影响功能或组装, Andreas Hentschel。
intellectual disability, Roseline Caumes, Norbert Wagner, Claudine Rieubland, and seizures. The chaperonin TRiC is an obligate hetero-oligomer, Sebastian Giesselmann。
- 支付宝扫一扫
- 微信扫一扫