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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

Genes - 4 Mar 2024

Man Alice, Di Scipio Matteo, Grewal Shan, Suk Yujin, Trinari Elisabetta, Ejaz Resham, Whitney Robyn

Abstract excerpt

The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively described as mTORopathies. Tuberous sclerosis complex (TSC) serves as the prototypical mTORopathy. Characterized by...

Topics

Humans
Tuberous Sclerosis
Tuberous Sclerosis Complex 2 Protein
Mutation
Genetic Testing
TOR Serine-Threonine Kinases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38540392
DOI: 10.3390/genes15030332
PMCID: PMC10970281

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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