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Tuberous sclerosis complex (TSC) represents the prototypic monogenic disorder of the mammalian target of rapamycin (mTOR) pathway dysregulation.
Tuberous Sclerosis Complex as Disease Model for Investigating …
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Can mTOR inhibitors be used to treat tuberculosis complex (TSC)?
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment.
mTOR inhibitors in the pharmacologic management of tuberous scleros…
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What is tuberous sclerosis complex (TSC)?
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that typically results in the growth of hamartomas in multiple major organ systems [1 – 3]. TSC is a rare disease that is estimated to occur in one in 6000 births, affecting approximately 1.5 million people worldwide [1, 2, 4].
mTOR inhibitors in the pharmacologic management of tuberous scleros…
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Can mTOR inhibitors prevent long-term morbidity in TSC?
There is also particular interest in the potential role of mTOR inhibitors in preventing seizures, neurodevelopmental disabilities, renal tumors, cutaneous tumors, and other manifestations typically seen in TSC. It is foreseeable that use of mTOR inhibition to prevent long-term morbidity in TSC will become mainstream therapeutic practice.
mTOR inhibitors in the pharmacologic management of tuberous scleros…
pmc.ncbi.nlm.nih.gov
Does mTOR inhibition affect neurologic and developmental disorders beyond TSC?
A goal of current research is to identify the role of mTOR inhibition in neurologic and developmental disorders beyond that of TSC (e.g., Leigh syndrome, Down syndrome, and neurofibromatosis types 1 and 2), which nonetheless share a common feature of mTOR pathway hyperactivation.
mTOR inhibitors in the pharmacologic management of tuberous scleros…
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Are TSC-related clinical manifestations associated with hyperactivation of the mTOR pathway?
It is widely accepted that most TSC-related clinical manifestations are associated with hyperactivation of the mammalian target of rapamycin (mTOR) pathway caused by loss‑of‑function mutations in TSC1 or TSC2. Remarkable progress in basic and translational research has led to encouraging clinical advances.
Perfect match: mTOR inhibitors and tuberous sclerosis complex
pubmed.ncbi.nlm.nih.gov
Is sirolimus a mTOR inhibitor?
Although no mTOR inhibitors are currently indicated specifically for the treatment of seizures associated with TSC, recent clinical evidence has shown promise for this use in this setting. The results of several small reports suggest that sirolimus may be effective for the treatment of TSC-associated seizures [52 – 54].
mTOR inhibitors in the pharmacologic management of tuberous scleros…
pmc.ncbi.nlm.nih.gov
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Perfect match: mTOR inhibitors and tuberous sclerosis complex
Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for the treatment of TSC, including …
- mTOR Inhibitors in Tuberous …
  This review will focus on the role of mTOR inhibitors in the treatment of tuberous …
- mTOR inhibitors in the pha…
  Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder …
- mTOR Inhibitors in Tubero…
  This article will discuss the role of the mTOR pathway in TSC and review the …
- Systematic review of mTO…
  Tuberous sclerosis complex (TSC) is a major genetic cause of epilepsy, …
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mTOR Inhibitors in Tuberous Sclerosis Complex - PubMed Central …
This review will focus on the role of mTOR inhibitors in the treatment of tuberous sclerosis. We will discuss the role of the mTOR pathway in TSC, the pharmacology of mTOR inhibitors, …
标记:
Tuberous sclerosis
Tsc Mtor
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mTOR通路关键调控复合物TSC的结构和酶活机制 - 网易
2021年1月14日 · 结节性硬化症蛋白复合体（Tuberous Sclerosis Complex, 简称 TSC复合体）是mTORC1信号通路中重要的蛋白质复合体，其整合细胞外各种因素的刺激，负调控mTORC1 …
nih.gov
https://pmc.ncbi.nlm.nih.gov › articles
mTOR inhibitors in the pharmacologic management of tuberous …
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of …
标记:
Tuberous sclerosis
Tsc Mtor
知乎专栏
https://zhuanlan.zhihu.com
可治性罕见病—结节性硬化症 - 知乎专栏
结节性硬化症 ( Tuberous sclerosis complex，TSC)是一种常染色体显性遗传疾病，是TSCl/2基因突变导致 mTOR蛋白的过度激活，从而异常细胞生长增殖，蛋白合成和血管新生，是可以在 …
PubMed
https://pubmed.ncbi.nlm.nih.gov
mTOR Inhibitors in Tuberous Sclerosis Complex - PubMed
This article will discuss the role of the mTOR pathway in TSC and review the pharmacokinetics, pharmacodynamics, clinical efficacy, and tolerability of mTOR inhibitors, along with their …
标记:
Mtor Inhibitors For Tsc
Mtor Inhibitor Clinical Trials
Mtor Inhibitor Tsc Renal Cyst
PubMed
https://pubmed.ncbi.nlm.nih.gov
Perfect match: mTOR inhibitors and tuberous sclerosis complex
2022年3月4日 · Herein, we have summarized the current utilization of mTOR inhibitors in the treatment of TSC and focused on their efficacy and safety, in an attempt to provide a reference …
标记:
Tuberous sclerosis
Tsc Mtor
Perfect: A Novel
National Center for Biotechnology Information
https://www.ncbi.nlm.nih.gov › pmc › articles
Systematic review of mTOR inhibitor treatment, biomarkers and ...
Tuberous sclerosis complex (TSC) is a major genetic cause of epilepsy, characterised by benign multi-system tumours (eg brain, kidney and skin) and neurological disorders (eg epilepsy, …
标记:
Tuberous sclerosis
Mtor Inhibitor Clinical Trial
Presidential Memorial Certificate
复旦大学上海医学院
https://shmc.fudan.edu.cn › page.htm
复旦上医徐彦辉团队揭示mTOR通路关键调控复合物TSC …
2021年1月14日 · 结节性硬化症蛋白复合体（Tuberous Sclerosis Complex, 简称TSC复合体）是mTORC1信号通路中重要的蛋白质复合体，其整合细胞外各种因素的刺激，负调控mTORC1复合体的活性，起到肿瘤抑制的作用。
MDPI
https://www.mdpi.com
Therapeutic Approaches to Tuberous Sclerosis Complex: From
2024年9月21日 · Both TSC1 and TSC2 inhibit the mammalian target of rapamycin (mTOR) complexes pathway, which is crucial for cell proliferation, growth, and differentiation, and is …
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