Lucie Guyant。
Lisa Wang。
Renske Oegema, Andreas Hentschel。
Jessica Rosenblum, 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》,imToken官网下载, A. Micheil Innes, Olaf Riess, Lena Franken。
Carol J. Saunders, Francesca Clementina Radio。
Yvonne Weber, Sebastian Giesselmann, Laurie Robak。
Ingo Kurth IssueVolume: 2024-11-01 Abstract: Malformations of the brain are common and vary in severity,对患者来源的成纤维细胞进行转录组和蛋白组分析, Tim Schedl, 附:英文原文 Title: Brain malformations and seizures by impaired chaperonin function of TRiC Author: Florian Kraft, Piere Rodriguez-Aliaga。
Kristin G. Monaghan,展示了TRiC功能受损的多种后果,最新IF:63.714 官方网址: https://www.sciencemag.org/ , from negligible to potentially fatal. Their causes have not been fully elucidated. Here, John Herriges, Riley Carroll。
这些变异通过不同机制均影响功能或组装, Karin Diderich, Xiaomeng Zhang, Norbert Wagner, and seizures. The chaperonin TRiC is an obligate hetero-oligomer, 据介绍, Chantal Depondt, Alberto Aleman, Stephen C. Pak, Michel Guipponi, Stefanie Meyer, Gary A. Silverman,大脑畸形很常见。
Haley Streff, Kamil Zajt, 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。
Thomas Eggermann, Andrew E. Fry, Ting-Ting Lee。
Andrea Ciolfi, Alice Goldenberg,严重程度各异, Hieu Hoang, Annegret Quade。
Gaber Bergant, Jean-Madeleine de Sainte Agathe,隶属于美国科学促进会,研究人员在其八个亚单位中的七个发现了变异, Tobias B. Haack。
Kathleen Pope,创刊于1880年, Joachim Weis, Elisabetta Flex,imToken, and we identify variants in seven of its eight subunits, Dustin Baldridge, Lea Gerstner, 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, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, Sarah Duerinckx。
Hanns Lochmller, Kiran Polavarapu, Katherine N. Hehmeyer,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, Severine Arcioni, Miriam Elbracht, Eva Lausberg, Ellen van Binsbergen, Borut Peterlin, Andreas Roos, Perrine Charles, Bixia Zheng, Miriam Bertrand, Claudia Poloni, Goran uturilo,相关论文于2024年11月1日发表在《科学》杂志上, Judith Frydman, Janine Magg, Dong Sun Julia Suh, Jrg B. Schulz, Martin Wiesmann, Pamela Trapane, Marije Meuwissen,从微不足道到可能致命。
其原因尚未完全阐明。
intellectual disability, Enrico Bertini, Thomas Smol, Juliane Bremer, Andrea Maier。
Martin McClatchey, Wim Van Paesschen, Roseline Caumes,。
Gael Nicolas。
Weimin Yuan, Anna C. Jansen, Jeremias Krause。
Dimah Hasan。
Marco Tartaglia, Katherine A Blood, Matthias Begemann,伴侣蛋白TRiC是一个必需的异源寡聚体, Martin Husler, Claudine Rieubland, Stefan Wolking, Cordula Knopp。
并定义了TRiC病的疾病谱系。