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Article

Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants.

The Journal of comparative neurology - 1 Nov 2013

Mietzsch Ulrike, McKenna James, Reith R Michelle, Way Sharon W, Gambello Michael J

Abstract excerpt

Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with variable expressivity. Heterozygous mutations in either of two genes, TSC1 (hamartin) or TSC2 (tuberin), are responsible for most cases. Hamartin and tuberin form a heterodimer that functions as a major cellular inhibitor of the mammalian target of rapamycin complex 1 (mTORC1) kinase. Genotype-phenotype studies suggest that TSC2 mutations are...

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Source

Identifiers

PMID: 23749404
DOI: 10.1002/cne.23380

Genes

TSC2
TSC1
GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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