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  5. An insight of scientific developments in tsc for better therapeutic strategy
 
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An insight of scientific developments in tsc for better therapeutic strategy

Source
Current Topics in Medicinal Chemistry
ISSN
15680266
Date Issued
2020-01-01
Author(s)
Natarajan, Nalini
Thiruvenkatam, Vijay  
DOI
10.2174/1568026620666200825170355
Volume
20
Issue
23
Abstract
Tuberous sclerosis complex (TSC) is a rare genetic disease, which is characterized by non-cancerous tumors in multi-organ systems in the body. Mutations in the TSC1 or TSC2 genes are known to cause the disease. The resultant mutant proteins TSC1 (hamartin) and TSC2 (tuberin) complex evade its normal tumor suppressor function, which leads to abnormal cell growth and proliferation. Both TSC1 and TSC2 are involved in several protein-protein interactions, which play a significant role in maintaining cellular homeostasis. The recent biochemical, genetic, structural biology, clinical and drug discovery advancements on TSC give a useful insight into the disease as well as the molecular aspects of TSC1 and TSC2. The complex nature of TSC disease, a wide range of manifestations, mosaicism and several other factors limits the treatment choices. This review is a compilation of the course of TSC, starting from its discovery to the current findings that would take us a step ahead in finding a cure for TSC.
Unpaywall
URI
http://repository.iitgn.ac.in/handle/IITG2025/24271
Subjects
Coiled-coil sequence | Crystal structure | Disruptive mutation | Heat shock proteins | Hypoxia | MTOR inhibition | Protein-protein interaction | Rapalogs treatment | Tuberous sclerosis complex
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