Results 61 to 70 of about 28,615 (209)

Insulin‐like growth factor 1 receptor correlates with verbal memory in ILAE type 2 hippocampal sclerosis

Epilepsia, EarlyView.
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz, Amauri Batista de Oliveira‐Júnior, André Fernando Garcia Cortez, Ricardo Lutzky Saute, Ricardo Silva Centeno, Joao Norberto Stávale, Mirian Salvadori Bittar Guaranha, Elza Marcia Targas Yacubian, Esper Abrão Cavalheiro, Joao Pereira Leite, Jose Eduardo Peixoto‐Santos   +10 more
wiley   +1 more source

Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: Effects on mTORC1 and Akt signaling lead to improved survival and function [PDF]

, 2008
Tuberous sclerosis (TSC) is a hamartoma syndrome due to mutations in either TSC1 or TSC2 in which brain involvement causes epilepsy, mental retardation, and autism.
Egnor, Anna, Kramvis, Ioannis, Kwiatkowski, David J., Lane, Heidi, Meikle, Lynsey, Pollizzi, Kristen, Sahin, Mustafa   +6 more
core   +1 more source

Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks

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, Yu Ma, Wanwan Hou, Haibo Li, Yuanfeng Zhou, Rui Zhao, Hao Li, Lian Chen, Yangyang Ma, Li Jin, Yi Wang, Yu An   +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, Baker-Williams, Alexander J, Bourboulia, Dimitra, Bratslavsky, Gennady, Bratslavsky, Michael S, Hughes, Michael, Jacob, Joseph M, Mollapour, Mehdi, Sager, Rebecca A, Shapiro, Oleg, Wong, Michael, Woodford, Mark R   +11 more
core   +1 more source

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, Narov, Kalin, Sampson, Julian R, Samsel, Paulina, Shen, Ming Hong, Yang, Jian   +5 more
core   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

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, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

mTORC1 Activation by Loss of Tsc1 in Myelinating Glia Causes Downregulation of Quaking and Neurofascin 155 Leading to Paranodal Domain Disorganization

Frontiers in Cellular Neuroscience, 2018
Mutations in human tuberous sclerosis complex (TSC) genes TSC1 and TSC2 are the leading causes of developmental brain abnormalities and large tumors in other tissues.
Qian Shi, Julia Saifetiarova, Anna Marie Taylor, Manzoor A. Bhat   +3 more
doaj   +1 more source

Tuberous Sclerosis Complex cell‐derived EVs have an altered protein cargo capable of regulating their microenvironment and have potential as disease biomarkers

Journal of Extracellular Vesicles, 2023
Hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) is a feature of many solid tumours and is a key pathogenic driver in the inherited condition Tuberous Sclerosis Complex (TSC).
Muireann Ní Bhaoighill, Juan M. Falcón‐Pérez, Félix Royo, Andrew R. Tee, Jason P. Webber, Elaine A. Dunlop   +5 more
doaj   +1 more source

Mechanistic Target of Rapamycin Complex 1 Signaling Links Hypoxia to Increased IGFBP-1 Phosphorylation in Primary Human Decidualized Endometrial Stromal Cells

Biomolecules, 2021
Insulin-like growth factor-1 (IGF-1) bioavailability in pregnancy is governed by IGF binding protein (IGFBP-1) and its phosphorylation, which enhances the affinity of IGFBP-1 for the growth factor.
Pinki Nandi, Chloe E. Jang, Kyle Biggar, Chidambra D. Halari, Thomas Jansson, Madhulika B. Gupta   +5 more
doaj   +1 more source

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., Avila, M.E., Caracci, M.O., De Ferrari, G.V., Medina, M.A., Opazo, C., Reyes, A.E., Ugarte, G.D., Vargas, M.F., Verdugo, D.A.   +9 more
core   +1 more source