Retracted Tuberous sclerosis complex: molecular pathogenesis and animal models

Leandro R. Piedimonte  M.D.; Ian K. Wailes  M.D.; Howard L. Weiner  M.D.

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Retracted Tuberous sclerosis complex: molecular pathogenesis and animal models

机译：缩回性结节性硬化症：分子发病机制和动物模型

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Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional signaling complex. Disruption of these genes in the brain res

机译：TSC1和TSC2这两个基因之一的突变会通过破坏它们的蛋白质产物（martinin和tuberin）的正常相互作用而形成相似的疾病表型，后者形成功能性信号复合物。这些基因在大脑中的破坏

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《Neurosurgical focus》 |2006年第1期|共1页
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Leandro R. Piedimonte M.D.; Ian K. Wailes M.D.; Howard L. Weiner M.D.;
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1. Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. [J] . Cao J, Gong L, Guo DC, Human Molecular Genetics . 2010,第10期

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2. Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/− mice [J] . Jiumei Cao, Limin Gong, Dong-chuan Guo, Human Molecular Genetics . 2010,第10期

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3. Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. [J] . Curatolo P, Bombardieri R, Verdecchia M, Journal of child neurology . 2005,第4期

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4. Machine Learning in Epilepsy Drug Treatment Outcome Prediction Using Multi-modality Data in Children with Tuberous Sclerosis Complex [C] . Jun Yang, Cailei Zhao, Shi Su, International Conference on Big Data and Information Analytics . 2020

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5. The effects of long-term caloric restriction on molecular outcome measures in the copper/zinc-SOD mutant G93A mouse, an animal model of amyotrophic lateral sclerosis (ALS). [D] . Patel, Barkha P. 2009

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6. Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis [O] . Reinhard Zech, Stephan Kiontke, Uwe Mueller, 2016

机译：结节性硬化复合物2（TSC2）N总站的结构提供了对复杂的组装和结节性硬化发病机理的了解。
7. Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis [O] . Reinhard Zech, Stephan Kiontke, Uwe Mueller, 2016

机译：结核硬化综合体2（TSC2）N末端的结构提供了对复杂组装和结核硬化发病机构的洞察力
8. Molecular Mechanisms Underlying the Epileptogenesis and Seizure Progression in Tuberous Sclerosis Complex 1 Deficient Mouse Models. [R] . Goldman, J. E. 2016

机译：结节性硬化综合征1缺陷小鼠模型中癫痫发生和癫痫发作的分子机制。

Retracted Tuberous sclerosis complex: molecular pathogenesis and animal models

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