Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex
Open Access
- 13 October 2004
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 13 (1) , 59-68
- https://doi.org/10.1038/sj.ejhg.5201276
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- TSC2: filling the GAP in the mTOR signaling pathwayTrends in Biochemical Sciences, 2004
- Rheb fills a GAP between TSC and TORTrends in Biochemical Sciences, 2003
- Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFRJournal of Clinical Investigation, 2003
- Tuberous Sclerosis: from Tubers to mTORAnnals of Human Genetics, 2003
- Tuberin Regulates p70 S6 Kinase Activation and Ribosomal Protein S6 PhosphorylationJournal of Biological Chemistry, 2002
- A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cellsHuman Molecular Genetics, 2002
- TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complexHuman Molecular Genetics, 2001
- Interaction between hamartin and tuberin, the TSC1 and TSC2 gene productsHuman Molecular Genetics, 1998
- Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34Science, 1997
- Identification and characterization of the tuberous sclerosis gene on chromosome 16Cell, 1993