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Article

Biallelic TSC gene inactivation in tuberous sclerosis complex.

Neurology - 25 May 2010

Crino Peter B, Aronica Eleonora, Baltuch Gordon, Nathanson Katherine L

Abstract excerpt

BACKGROUND: A pivotal developmental question is whether tubers in tuberous sclerosis complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations. Loss of TSC1 or TSC2 in vitro and in vivo leads to mTORC1 cascade activation and ribosomal protein S6 phosphorylation (P-S6). Giant cells (GCs) in tubers exhibit S6 phosphorylation, suggesting cell-specific loss of TSC gene function. METHODS: TSC1 and TSC2...

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Source

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Identifiers

PMID: 20498439
DOI: 10.1212/WNL.0b013e3181e04325
PMCID: PMC2882213

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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