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Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.

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第一作者： Patrick,Hansmann

第一单位： Westfälische Wilhelms-Universität, Institute of Biochemistry, Wilhelm Klemm-Str. 2, 48149 Münster, Germany.

作者： Patrick,Hansmann ^[1] ; Anne,Brückner ^[2] ; Stephan,Kiontke ^[3] ; Bianca,Berkenfeld ^[1] ; Guiscard,Seebohm ^[4] ; Pascal,Brouillard ^[5] ; Miikka,Vikkula ^[6] ; Floor E,Jansen ^[7] ; Mark,Nellist ^[8] ; Andrea,Oeckinghaus ^[9] ; Daniel,Kümmel ^[10]

作者单位： Westfälische Wilhelms-Universität, Institute of Biochemistry, Wilhelm Klemm-Str. 2, 48149 Münster, Germany. ^[1] Westfälische Wilhelms-Universität, Institute of Biochemistry, Wilhelm Klemm-Str. 2, 48149 Münster, Germany; Westfälische Wilhelms-Universität, Institute of Molecular Tumor Biology, Robert-Koch-Str. 43, 48149 Münster, Germany. ^[2] Philipps-Universität Marburg, Faculty of Biology, Department of Plant Physiology and Photobiology, Karl-von-Frisch-Str. 8, 35032 Marburg, Germany. ^[3] University Hospital Münster, Institute for Genetics of Heart Diseases, Department of Cardiovascular Medicine, Robert-Koch-Str. 45, 48149 Münster, Germany. ^[4] Université Catholique de Louvain, de Duve Institute, Human Molecular Genetics, Brussels, Belgium. ^[5] Université Catholique de Louvain, de Duve Institute, Human Molecular Genetics, Brussels, Belgium; WELBIO (Walloon Excellence in Lifesciences and Biotechnology), de Duve Institute, Université Catholique de Louvain, Brussels, Belgium. ^[6] Department of Child Neurology, Brain Center UMC Utrecht, Utrecht, the Netherlands. ^[7] Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, the Netherlands. ^[8] Westfälische Wilhelms-Universität, Institute of Molecular Tumor Biology, Robert-Koch-Str. 43, 48149 Münster, Germany. ^[9] Westfälische Wilhelms-Universität, Institute of Biochemistry, Wilhelm Klemm-Str. 2, 48149 Münster, Germany. Electronic address: daniel.kuemmel@wwu.de. ^[10]

关键词 GTPase-activating protein Rheb TSC mTORC1

医学主题词催化域(Catalytic Domain);HEK293细胞(HEK293 Cells);人类(Humans);分子动力学模拟(Molecular Dynamics Simulation);突变, 误义(Mutation, Missense);结节性硬化症(Tuberous Sclerosis)

DOI 10.1016/j.str.2020.05.008

PMID 32502382

发布时间 2021-07-28

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