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相关概念视频

mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

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The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
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Microtubules in Signaling01:22

Microtubules in Signaling

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The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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PI3K/mTOR/AKT Signaling Pathway01:22

PI3K/mTOR/AKT Signaling Pathway

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The mammalian target of rapamycin  (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1  (mTORC1) and mTOR complex 2  (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast,  mTORC2 consists of a...
3.7K
Assembly of Complex Microtubule Structures01:32

Assembly of Complex Microtubule Structures

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Complex microtubule structures are present in resting cells and in dividing cells. In resting cells, they are responsible for maintaining the cellular architecture, tracks for intracellular transport, positioning of organelles, assembly of cilia and flagella. They mediate the bipolar spindle assembly for chromosomal segregation and positioning of the cell division plate in dividing cells. The formation of microtubule complex structures depends on the cell type, cell stage, and cell function.
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Microtubule Associated Proteins (MAPs)01:42

Microtubule Associated Proteins (MAPs)

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Microtubule function and architecture are regulated by an array of specialized proteins called microtubule-associated proteins or MAPs. These proteins are widespread across different organisms and have conserved protein motifs, like the multi-TOG domain for tubulin binding found in the CLASP family of MAPs. Some MAPs are lineage-specific based on their conserved domains. Their functions depend upon the cytoskeletal architecture and cell type they are located within. In-plant cells, a specific...
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TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

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The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
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相关实验视频

Updated: Jul 20, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
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Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

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结核性硬化综合体 结核性硬化综合体

Mari Wataya-Kaneda1,2

  • 1Department of Neurocutaneous Medicine, Division of Health Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.

The Keio journal of medicine
|August 2, 2023
PubMed
概括

结核性硬化综合体 (TSC) 是一种遗传性疾病,由于mTORC1过度激活,导致瘤. 新的mTORC1抑制剂提供有效的治疗方法,但需要仔细管理和研究皮肤病变的局部配方.

科学领域:

  • 遗传学和分子生物学
  • 神经学 神经学
  • 皮肤病学 皮肤病学

背景情况:

  • 结核性硬化综合体 (TSC) 是一种自体主导性疾病,其特征是系统性瘤和TSC相关的神经精神疾病 (TAND).
  • 疾病的发病与拉巴胺素复合体1 (mTORC1) 途径的机械性标的构成性激活有关,这是由于TSC1或TSC2基因的突变造成的.
  • 诊断和了解TSC病变的进展对其诊断和治疗产生了重大影响.

研究的目的:

  • 总结目前对TSC病原和治疗策略的理解.
  • 突出mTORC1抑制剂的出现作为TSC的治疗方法.
  • 讨论开发一个协作护理模式和TSC的局部治疗方法.

主要方法:

  • 审查关于TSC病变发生,诊断和治疗的现有文献.
  • 分析mTORC1抑制剂对TSC症状的影响.
  • 检查"TSC Board"和局部mTORC1抑制剂配方的发展情况.

主要成果:

  • mTORC1抑制剂对TSC症状有效,但可能导致全身副作用.
  • 已经建立了一个"TSC Board"模型,以促进跨学科的护理.
  • 已开发出局部mTORC1抑制剂配方,以管理TSC相关的皮肤病变并减少全身副作用.
关键词:
诊断标准 诊断标准 诊断标准 诊断标准在 mTORC1 的情况下,mTORC1 是卫生,劳动和福利部.这是mTORC1抑制剂的局部配方.结核性硬化综合体 结核性硬化综合体

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结论:

  • 治疗TSC已经从纯症状治疗演变为针对性治疗,如mTORC1抑制剂.
  • 多学科方法和专业护理模式对于有效管理TSC至关重要.
  • 目前正在进行的研究,包括开发局部治疗,旨在改善患者的治疗结果,并最大限度地减少与治疗相关的副作用.