Identification of a region required for TSC1 stability by functional analysis of
BMC Medical Genetics, 2009 Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
den Dunnen Johan T +9 more
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Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex. [PDF]
PLoS ONE, 2014 The TSC1-TSC2-TBC1D7 complex is an important negative regulator of the mechanistic target of rapamycin complex 1 that controls cell growth in response to environmental cues.
Arthur Jorge Santiago Lima +7 more
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Tsc1 deletion in Purkinje neurons disrupts the axon initial segment, impairing excitability and cerebellar function [PDF]
Neurobiology of DiseaseLoss-of-function mutations in tuberous sclerosis 1 (TSC1) are prevalent monogenic causes of autism spectrum disorder (ASD). Selective deletion of Tsc1 from mouse cerebellar Purkinje neurons has been shown to cause several ASD-linked behavioral ...
Samuel P. Brown +3 more
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Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1 [PDF]
Cell Reports, 2018 Summary: mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Katelyn N. Benthall +2 more
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Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations [PDF]
Scientific ReportsTuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas and prominent neurological involvement. It results from pathogenic variants in the TSC1 or TSC2 genes, leading to hyperactivation of the mTOR ...
Andrea Domenico Praticò +13 more
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Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate [PDF]
Stem Cell Research & TherapyBackground Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism.
Shuang Wang +7 more
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PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex [PDF]
, 2015 Tuberous sclerosis complex (TSC) is caused by inactivating mutations in either TSC1 or TSC2 and is characterized by uncontrolled mTORC1 activation. Drugs that reduce mTOR activity are only partially successful in the treatment of TSC, suggesting that ...
Maria M. Alves +12 more
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p38 regulates the tumor suppressor PDCD4 via the TSC-mTORC1 pathway
Cell Stress, 2021 Programmed cell death protein 4 (PDCD4) exerts critical functions as tumor suppressor and in immune cells to regulate inflammatory pro-cesses. The phosphoinositide 3-kinase (PI3K) promotes degradation of PDCD4 via mammalian target of rapamycin complex 1 (
Clarissa Braun +6 more
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Osteocyte TSC1 promotes sclerostin secretion to restrain osteogenesis in mice [PDF]
Open Biology, 2019 Osteocytes secrete the glycoprotein sclerostin to inhibit bone formation by osteoblasts, but how sclerostin production is regulated in osteocytes remains unclear.
Wen Liu +14 more
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Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts. [PDF]
PLoS ONE, 2014 TSC1 and TSC2 mutations cause neoplasms in rare disease pulmonary LAM and neuronal pathfinding in hamartoma syndrome TSC. The specific roles of TSC1 and TSC2 in actin remodeling and the modulation of cell motility, however, are not well understood ...
Elena A Goncharova +4 more
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