Results 11 to 20 of about 18,686 (194)
Tsc1 is a Critical Regulator of Macrophage Survival and Function [PDF]
Cellular Physiology and Biochemistry, 2015 Background/Aims: Tuberous sclerosis complex 1 (Tsc1) has been shown to regulate M1/M2 polarization of macrophages, but the precise roles of Tsc1 in the function and stability of macrophages are not fully understood. Here we show that Tsc1 is required for
Chunmin Fang +12 more
doaj +3 more sources
Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex. [PDF]
EpilepsiaAbstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Guo D +4 more
europepmc +2 more sources
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits [PDF]
BMC Biochemistry, 2012 Abstract Background Mutations to the TSC1 and TSC2 genes cause the disease tuberous sclerosis complex. The TSC1 and TSC2 gene products form a protein complex that integrates multiple metabolic signals to regulate the activity of the target of rapamycin (TOR) complex 1 (TORC1) and thereby control cell growth.
Hoogeveen - Westerveld, Marianne +5 more
openaire +2 more sources
TSC1/TSC2 signaling in the CNS [PDF]
FEBS Letters, 2011 Over the past several years, the study of a hereditary tumor syndrome, tuberous sclerosis complex (TSC), has shed light on the regulation of cellular proliferation and growth. TSC is an autosomal dominant disorder that is due to inactivating mutations in TSC1 or TSC2 and characterized by benign tumors (hamartomas) involving multiple organ systems.
Han, Juliette M., Sahin, Mustafa
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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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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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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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Molecular Autism, 2023 Background Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders ...
Inci S. Aksoylu +12 more
doaj +1 more source
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
doaj +1 more source