1998
DOI: 10.1093/hmg/7.6.1053
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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

Abstract: Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor gene. The disease is characterized by a broad phenotypic spectrum that can include seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC2 encodes tuberin, a putative GTPase activating protein for rap1 and rab5. The TSC1 gene was recently identified and codes for hamartin, a novel protein with no significant homology to tuberin or any other known vertebrate… Show more

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Cited by 521 publications
(326 citation statements)
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“…3,4 These proteins form a heterodimer involved in negative regulation of the mammalian target of rapamycin complex 1 (mTORC1) kinase. [5][6][7] mTORC1 is an important element in controlling cell proliferation and growth, insulin signaling, and protein translation. 8 Dysregulation of mTORC1 is an important aspect in the pathogenesis of TSC.…”
Section: Original Research Article © American College Of Medical Genementioning
confidence: 99%
“…3,4 These proteins form a heterodimer involved in negative regulation of the mammalian target of rapamycin complex 1 (mTORC1) kinase. [5][6][7] mTORC1 is an important element in controlling cell proliferation and growth, insulin signaling, and protein translation. 8 Dysregulation of mTORC1 is an important aspect in the pathogenesis of TSC.…”
Section: Original Research Article © American College Of Medical Genementioning
confidence: 99%
“…TSC1 and TSC2 are widely expressed in human tissues, such as heart, brain, lung, liver, kidney, pancreas and skeletal muscle (Consortium, 1993;van Slegtenhorst et al, 1997;Huang and Manning, 2008). The two proteins interact through coiled-coil domains to form a stable, functional heterodimer (van Slegtenhorst et al, 1998). The C-terminal region of TSC2 shows homology to the Rap GTPase activating protein, and GTPase activating protein activity to various G-proteins (Wienecke et al, 1995;Xiao et al, 1997 NUAK1, NUAK2 SIK1, SIK2 QSK MARK1, MARK2, MARK3, MARK4 BRSK1, BRSK2 SNRK inactive active p la s m a m e m b r a n e Figure 1 Activation and translocation of LKB1.…”
Section: Regulation Of the Tsc1:tsc2 Complexmentioning
confidence: 99%
“…5,28 Mutations were additionally classified into protein-truncating (PT; nonsense, frame-shift, splice site, large deletions of at least one exon) and non-truncating (missense, small in-frame deletions and insertions) mutations. Protein-truncating mutations were divided into proximal and distal mutations, determined from the middle exon of each gene.…”
Section: Genetic Analysismentioning
confidence: 99%
“…3 Mutations in TSC1 and TSC2 are typically inactivating, resulting in little to no protein activity, leading to upregulation of mTORC1. 4,5 This results in a constitutive growth phenotype with development of hamartomas in various organ systems, including the brain. More than 90% of individuals with TSC show neuroanatomical abnormalities such as tubers, sub-ependymal growths and white matter abnormalities.…”
Section: Introductionmentioning
confidence: 99%