Hamartin
Definition:
References:
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[1]. Jae Seok Lim, et al. Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. Am J Hum Genet. 2017 Mar 2;100(3):454-472. [Content Brief]
[2]. Yong Li, et al. Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. Mol Cell Biol. 2004 Sep;24(18):7965-75. [Content Brief]
[3]. Huira Chong-Kopera, et al. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. J Biol Chem. 2006 Mar 31;281(13):8313-6. [Content Brief]
[4]. Mark R Woodford, et al. Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. EMBO J. 2017 Dec 15;36(24):3650-3665. [Content Brief]
[5]. Andrew R Tee, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13571-6. [Content Brief]
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