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Article

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Journal of neuropathology and experimental neurology - 1 Dec 2004

Chan Jennifer A, Zhang Hongbing, Roberts Penelope S, Jozwiak Sergiusz, Wieslawa Grajkowska, Lewin-Kowalik Joanna, Kotulska Katarzyna, Kwiatkowski David J

Abstract excerpt

In the central nervous system, tuberous sclerosis complex (TSC) is characterized by a range of lesions including cortical tubers, white matter heterotopias, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs). Recent studies have implicated an important role for the TSC genes TSC1 and TSC2, in a signaling pathway involving the mammalian target of rapamycin (mTOR) kinase. We performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15624760
DOI: 10.1093/jnen/63.12.1236

Genes

TSC1
TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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