In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis [PDF]
Orphanet Journal of Rare DiseasesBackground Tuberous sclerosis complex (TSC) is a rare genetic neurocutaneous disorder resulting from mutations in the TSC1 or TSC2 genes, characterized by overgrowth and lesions in multiple organs.
Julika E. Friedrich +13 more
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Deubiquitinase USP7 stabilizes the histone demethylase KDM5B and promotes the progression of renal fibrosis through the TSC1/mTOR axis [PDF]
Molecular BiomedicineUbiquitin-specific protease 7 (USP7) is a deubiquitinase that plays critical regulatory roles in multiple signaling pathways by preventing the ubiquitin-mediated degradation of its substrates.
Shiqi Lv +12 more
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Lung mTOR activation leads to lung fibrosis or emphysema via senescence of specific lung cells [PDF]
Scientific ReportsExaggerated cellular senescence contributes to pulmonary emphysema and fibrosis, yet the mechanisms driving these distinct disease phenotypes remain poorly understood.
A. Houssaini +17 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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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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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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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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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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