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Tuberous sclerosis protein 1, also known as TSC1or hamartin, is a human protein and gene.[1] This peripheral membrane protein was implicated as a tumor suppressor. It may be also involved in vesicular transport and docking, in complex with TSC2. Defects in this gene may cause tuberous sclerosis, due to a functional impairment of the hamartin-tuberin complex. Defects in TSC1 may also be a cause of focal cortical dysplasia.
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van Slegtenhorst M, Verhoef S, Tempelaars A; et al. (1999). "Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation". J. Med. Genet. 36 (4): 285–9. PMID10227394.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Niida Y, Lawrence-Smith N, Banwell A; et al. (2000). "Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis". Hum. Mutat. 14 (5): 412–22. doi:10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. PMID10533067.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Zhang H, Nanba E, Yamamoto T; et al. (2000). "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex". J. Hum. Genet. 44 (6): 391–6. PMID10570911.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Nellist M, van Slegtenhorst MA, Goedbloed M; et al. (2000). "Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin". J. Biol. Chem. 274 (50): 35647–52. PMID10585443.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Yamashita Y, Ono J, Okada S; et al. (2000). "Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations". Am. J. Med. Genet. 90 (2): 123–6. PMID10607950.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Lamb RF, Roy C, Diefenbach TJ; et al. (2000). "The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho". Nat. Cell Biol. 2 (5): 281–7. doi:10.1038/35010550. PMID10806479.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Miloloza A, Rosner M, Nellist M; et al. (2000). "The TSC1 gene product, hamartin, negatively regulates cell proliferation". Hum. Mol. Genet. 9 (12): 1721–7. PMID10915759.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Murthy V, Stemmer-Rachamimov AO, Haddad LA; et al. (2001). "Developmental expression of the tuberous sclerosis proteins tuberin and hamartin". Acta Neuropathol. 101 (3): 202–10. PMID11307618.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Catania MG, Mischel PS, Vinters HV (2001). "Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B.". J. Neuropathol. Exp. Neurol. 60 (7): 711–23. PMID11444800.CS1 maint: Multiple names: authors list (link)
