Results 81 to 90 of about 36,428 (236)

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

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, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 more
wiley   +1 more source

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

Neurobiology of Disease, 2017
Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC ...
Chloë Scheldeman, James D. Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M. Iyer, Benjamin J. Whalley, Jan Maes, Anna C. Jansen, Lieven Lagae, Eleonora Aronica, Peter A.M. de Witte   +11 more
doaj   +1 more source

Overexpression of Na+/Mg2+ exchanger SLC41A1 attenuates pro-survival signaling [PDF]

, 2017
The Na+/Mg2+ exchanger SLC41A1 (A1), a key component of intracellular Mg homeostasis (IMH), is the major cellular Mg2+ efflux system, and its overexpression decreases [Mg2+]intracellular.
Abdulhanan, Nasrin, Aschenbach, Jörg R., Cibulka, Michal, Fröhlich, Nadine, Kolisek, Martin, Mastrototaro, Lucia, Pilchova, Ivana, Racay, Peter, Röntgen, Monika, Sponder, Gerhard   +9 more
core   +1 more source

A PKB-SPEG signaling nexus links insulin resistance with diabetic cardiomyopathy by regulating calcium homeostasis [PDF]

, 2020
Diabetic cardiomyopathy is a progressive disease in diabetic patients, and myocardial insulin resistance contributes to its pathogenesis through incompletely-defined mechanisms.
AP Quick, AR Wende, B Dummler, C Pasqualin, C Quan, C Rask-Madsen, C Riehle, CM Hsieh, CX Qin, D Giugliano, D Pelled, DD Belke, DD Belke, DD Belke, DS Sohal, E Ferrannini, G Chu, G Jia, GW Dorn 2nd, H Bugger, K Ouyang, L Pereira, LE Wold, M Gautel, ME Kargacin, MT Swulius, PA Gorski, PB Agrawal, Q Chen, S Boudina, S Boudina, S Boudina, S Chen, S Kane, SJ Forrester, X Liu, X Xu, X Zhao, Y Wang   +38 more
core   +2 more sources

Engineering exosomal cargo loading via endogenous molecular pathways: Strategies to enhance therapeutic potential

Interdisciplinary Medicine, EarlyView.
This review illustrates how scientists engineer exosomes by hijacking the cell's own cargo‐sorting machinery. These strategies efficiently load therapeutic molecules into natural vesicles, creating powerful next‐generation drug delivery systems (Created with BioGDP.com).
Huanrong Zhu, Chenning Zhang, Shihan Ma, Zhanxue Xu, Cailing Liang, Fang Cheng, Hongbo Chen   +6 more
wiley   +1 more source

TSC2 S1365A mutation potently regulates CD8+ T cell function and differentiation and improves adoptive cellular cancer therapy

JCI Insight, 2023
MTORC1 integrates signaling from the immune microenvironment to regulate T cell activation, differentiation, and function. TSC2 in the tuberous sclerosis complex tightly regulates mTORC1 activation.
Chirag H. Patel, Yi Dong, Navid Koleini, Xiaoxu Wang, Brittany L. Dunkerly-Eyring, Jiayu Wen, Mark J. Ranek, Laura M. Bartle, Daniel B. Henderson, Jason Sagert, David A. Kass, Jonathan D. Powell   +11 more
doaj   +1 more source

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Proposal for an Optical Test of the Einstein Equivalence Principle

, 2019
The Einstein Equivalence Principle (EEP) underpins all metric theories of gravity. Its key element is the local position invariance of non-gravitational experiments, which entails the gravitational red-shift.
Magnani, Piergiovanni, Schiavon, Matteo, Smith, Alexander R. H., Terno, Daniel R., Vallone, Giuseppe, Vedovato, Francesco, Villoresi, Paolo   +6 more
core   +1 more source

Synaptic Wnt/GSK3β Signaling Hub in Autism [PDF]

, 2016
Indexación: ScopusHundreds of genes have been associated with autism spectrum disorders (ASDs) and the interaction of weak and de novo variants derive from distinct autistic phenotypes thus making up the "spectrum." The convergence of these variants in ...
Avila, M.E., Caracci, M.O., De Ferrari, G.V.   +2 more
core   +1 more source