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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10970281

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

About this item

Full title

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

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2024-03, Vol.15 (3), p.332

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

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 com...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10970281

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10970281

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes15030332

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