TSC1 (tuberous sclerosis 1) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on TSC1 (tuberous sclerosis 1), with data on DNA, on the protein encoded, and where the gene is implicated.
M van Slegtenhorst, Henske E Petri
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Erciyes Medical Journal, 2020 Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and
Esra Işık +11 more
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Specific disruption of Tsc1 in ovarian granulosa cells promotes ovulation and causes progressive accumulation of corpora lutea. [PDF]
PLoS ONE, 2013 Tuberous sclerosis complex 1 (Tsc1) is a tumor suppressor negatively regulating mammalian target of rapamycin complex 1 (mTORC1). It is reported that mice lacking Tsc1 gene in oocytes show depletion of primordial follicles, resulting in premature ovarian
Lin Huang +11 more
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FoxO restricts growth and differentiation of cells with elevated TORC1 activity under nutrient restriction. [PDF]
PLoS Genetics, 2018 TORC1, a central regulator of cell survival, growth, and metabolism, is activated in a variety of cancers. Loss of the tumor suppressors PTEN and Tsc1/2 results in hyperactivation of TORC1.
Katarzyna Nowak +2 more
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The mTOR Independent Function of Tsc1 and FNIPs [PDF]
Trends in Biochemical Sciences, 2018 New roles for Tsc1 and FNIP1/2 as regulators of the molecular chaperone Hsp90 were recently identified, demonstrating a broader cellular impact outside of AMPK-mTOR signaling. In studying the function of these proteins we must take a holistic view of the cell, instead of maintaining our focus on a single pathway.
Mark R. Woodford +2 more
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Conditional knockout of Tsc1 in RORγt-expressing cells induces brain damage and early death in mice
Journal of Neuroinflammation, 2021 Background Tuberous sclerosis complex 1 (Tsc1) is known to regulate the development and function of various cell types, and RORγt is a critical transcription factor in the immune system.
Yafei Deng +12 more
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Tumor suppressor Tsc1 is a new Hsp90 co‐chaperone that facilitates folding of kinase and non‐kinase clients [PDF]
, 2017 The tumor suppressors Tsc1 and Tsc2 form the tuberous sclerosis complex (TSC), a regulator of mTOR activity. Tsc1 stabilizes Tsc2; however, the precise mechanism involved remains elusive. The molecular chaperone heat-shock protein 90 (Hsp90) is an essen-
et al, +3 more
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Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3.
Dicky J. J. Halley +5 more
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Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. [PDF]
PLoS ONE, 2014 Germline and somatic biallelic mutations of the Tuberous sclerosis complex (TSC) 1 and TSC2 gene products cause TSC, an autosomal dominant multifocal hamartomatosis with variable neurological manifestations. The consequences of TSC1 or TSC2 loss in cells
Karolina Pilipow +3 more
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Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study
Translational Neuroscience, 2018 Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population.
Almobarak Sulaiman +7 more
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