The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2+/- mice through suppression of cell proliferation and induction of apoptosis [PDF]
, 2017 Tuberous sclerosis (TSC) is an inherited tumour syndrome caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR. Tumour responses in TSC patients to rapamycin, an allosteric inhibitor of mTOR, or its analogs are partial and ...
Jones, Ashley +5 more
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Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. [PDF]
PLoS ONE, 2018 Lymphangioleiomyomatosis (LAM) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (TSC2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the ...
Blanca E Himes +9 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy. The molecular heterogeneity underlying DRE remains poorly defined, largely due to limited access to resected brain tissue and substantial genetic diversity.
Yanping Weng +11 more
wiley +1 more source
Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]
, 2019 The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J +11 more
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Wnt/β-catenin signaling stimulates the expression and synaptic clustering of the autism-associated Neuroligin 3 gene [PDF]
, 2018 Indexación: Scopus.Synaptic abnormalities have been described in individuals with autism spectrum disorders (ASD). The cell-adhesion molecule Neuroligin-3 (Nlgn3) has an essential role in the function and maturation of synapses and NLGN3 ASD-associated ...
Andrade, V.M. +9 more
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Fasting metabolism modulates the interleukin-12/interleukin-10 cytokine axis.
PLoS ONE, 2017 A crucial role of cell metabolism in immune cell differentiation and function has been recently established. Growing evidence indicates that metabolic processes impact both, innate and adaptive immunity.
Johannes J Kovarik +16 more
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Epilepsia, EarlyView.Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk +8 more
wiley +1 more source
Neurobiology of Disease, 2012 Tuberous sclerosis complex (TSC) and fragile X syndrome (FXS) are caused by mutations in negative regulators of translation. FXS model mice exhibit enhanced metabotropic glutamate receptor-dependent long-term depression (mGluR-LTD).
Itzamarie Chévere-Torres +8 more
doaj +1 more source
Clinical use and radiological yield of magnetic resonance fingerprinting in epilepsy
Epilepsia, EarlyView.Abstract Objective Magnetic resonance fingerprinting (MRF) is a novel paradigm for magnetic resonance imaging (MRI) that efficiently generates multiparametric quantitative tissue property maps with a single acquisition. Its quantitative nature offers many advantages over conventional MRI.
Maksim Parfyonov +11 more
wiley +1 more source
Appetite for destruction: the inhibition of glycolysis as a therapy for tuberous sclerosis complex-related tumors [PDF]
, 2011 The elevated metabolic requirements of cancer cells reflect their rapid growth and proliferation and are met through mutations in oncogenes and tumor suppressor genes that reprogram cellular processes.
Blenis John, Csibi Alfredo
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