Associated Papers
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
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2011
Genetics and molecular biology of tuberous sclerosis complex.
Napolioni V et al.
Current Genomics, 2008
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
Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/Akt-dependent and -independent phosphorylation of tuberin.
Tee AR et al.
The Journal of Biological Chemistry, 2003
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
Nellist M et al.
Human Molecular Genetics, 2001
Abstracts of the International School of Neurological Sciences 11th annual meeting of the child neurology section. Venice, Italy, September 28-29, 2001.
Unknown Author
Journal of Child Neurology, 2001
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H et al.
Journal of Human Genetics, 1999
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