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Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets

21 Sept 2024

Abstract excerpt

Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 encoding the tuberin and hamartin proteins, respectively. Both TSC1 and TSC2 inhibit the mammalian target of rapamycin (mTOR) complexes pathway, which is crucial for cell proliferation, growth, and differentiation, and is stimulated by various...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39334956
DOI: 10.3390/biom14091190

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