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Article

Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.

Journal of neuropathology and experimental neurology - 1 Oct 2009

Lugnier Céline, Majores Michael, Fassunke Jana, Pernhorst Katharina, Niehusmann Pitt, Simon Matthias, Nellist Mark, Schoch Susanne, Becker Albert

Abstract excerpt

Focal cortical dysplasia type IIb is characterized by epilepsy-associated malformations that are often composed of balloon cells and dysplastic neurons. There are many histopathologic similarities between focal cortical dysplasia type IIb and cortical tubers in tuberous sclerosis complex (TSC), an autosomal-dominant phakomatosis caused by mutations in the TSC1 or TSC2 genes that encode hamartin and tuberin. We...

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Source

Identifiers

PMID: 19918125
DOI: 10.1097/NEN.0b013e3181b9a699

Genes

TSC1
TSC2

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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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Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.PMID 19918125Read ↗

Characterization of the Cytosolic Tuberin-Hamartin ComplexSemantic proximity Read ↗

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mTORC1 activation drives astrocyte reactivity in cortical tubers and brain organoid models of TSCSemantic proximity Read ↗

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene productsSemantic proximity Read ↗

Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.Semantic proximity Read ↗

The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partnersSemantic proximity Read ↗

The TSC1 gene product, hamartin, negatively regulates cell proliferationSemantic proximity Read ↗

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