Associated Papers
Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.
Nguyen AV et al.
Molecular Biology Reports, 2025
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Conditional cell reprogramming involves non-canonical β-catenin activation and mTOR-mediated inactivation of Akt.
Suprynowicz FA et al.
Plos One, 2017
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Nellist M et al.
European Journal of Human Genetics : Ejhg, 2005
Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway.
Jozwiak J et al.
Neuromolecular Medicine, 2005
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