Bidirectional sleep-seizure interactions and orexin in a mouse model of tuberous sclerosis complex-related epilepsy. [PDF]
EpilepsiaAbstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Rensing NR +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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Loss of TSC1 in secondary angiosarcoma of the breast
Clinical Case Reports, 2023 Key Clinical MessagePost‐radiation angiosarcoma of the breast is a rare complication associated with a poor prognosis. This case reports the first loss of function mutation in TSC1 in breast radiation‐induced angiosarcoma and illustrates the utility of evaluating these markers to identify potential therapeutic targets.AbstractPost‐radiation ...
Lucy Rose +3 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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Molecular analysis of a Tsc1-deficient mouse. [PDF]
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutation in either the TSC1 or TSC2 genes and characterised by the development of benign hamartomatous growths in multiple organ systems. We have inactivated Tsc1 in the mouse germ line by gene targeting in ES cells and confirmed that the mutant allele (Tsc1-) has a recessive ...
Wilson, Catherine.
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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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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.
Rebecca A, Sager +2 more
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Regulation of the mammalian target of rapamycin complex 2 (mTORC2) [PDF]
, 2006 The growth controlling mammalian Target of Rapamycin (mTOR) is a conserved Ser/Thr kinase found in two structurally and functionally distinct complexes, mTORC1 and mTORC2.
Molle, Klaus-Dieter
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Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]
Clin Case RepABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
Fekih A +6 more
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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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