Results 61 to 70 of about 23,999 (238)
Epilepsia, EarlyView.Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley +11 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal +5 more
wiley +1 more source
TSC2 regulates PKM2 phosphorylation in an mTORC1-independent manner.
, 2020 (A) Immunoblot analysis of TSC2, phospho-PKM2 [Ser37], PKM2 and Phospho-S6 [Ser235/236] in 621–101 (TSC2-) and 621–103 (TSC2+) cells (n = 3); β-actin as a loading control. (B) Densitometry analysis of phospho-PKM2 [Ser37] was performed (n = 3).
Erik Zhang (70061) +9 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir +21 more
wiley +1 more source
TSC2 Mutations Were Associated with the Early Recurrence of Patients with HCC Underwent Hepatectomy
Pharmacogenomics and Personalized Medicine, 2021 Kangjian Song, Fu He, Yang Xin, Ge Guan, Junyu Huo, Qingwei Zhu, Ning Fan, Yuan Guo, Yunjin Zang, Liqun Wu Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ChinaCorrespondence: Liqun WuLiver
Song K +9 more
doaj
mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy. [PDF]
PLoS ONE, 2016 Mammalian target of rapamycin complex 1 (mTORC1) is a key regulator of cell growth, proliferation and metabolism. mTORC1 regulates protein synthesis positively and autophagy negatively. Autophagy is a major system to manage bulk degradation and recycling
Manabu Taneike +11 more
doaj +1 more source
Evidence for population variation in TSC1 and TSC2 gene expression [PDF]
BMC Medical Genetics, 2011 AbstractBackgroundTuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes,TSC1orTSC2, which encode the proteins hamartin and tuberin, respectively [1–3]. Common features of TSC include intractable epilepsy, mental retardation, and autistic features.
Saffen David +4 more
openaire +3 more sources
Epilepsia Open, EarlyView.Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing
Stem Cell ResearchTuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we ...
Siyao Zhang +4 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood +11 more
wiley +1 more source