Results 91 to 100 of about 312,868 (268)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Ion channels and epilepsy [PDF]

QJM, 2006
In order for cells to retain their integrity to water and yet permeate charged ions, the phospholipid cell membrane contains transmembrane proteins that allow the passage of specific ions from the interior of the cell to outside, and vice versa. There is a huge diversity of these ion channels.
openaire   +2 more sources

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

TRPV4 activation triggers protective responses to bacterial lipopolysaccharides in airway epithelial cells

Nature Communications, 2017
LPS is a major component of gram-negative bacterial cell walls, and triggers immune responses in airway epithelium by activating TLR4. Here the authors show that LPS also activates TRPV4, thereby inducing fast defense responses such as nitric oxide ...
Yeranddy A. Alpizar, Brett Boonen, Alicia Sanchez, Carole Jung, Alejandro López-Requena, Robbe Naert, Brecht Steelant, Katrien Luyts, Cristina Plata, Vanessa De Vooght, Jeroen A. J. Vanoirbeek, Victor M. Meseguer, Thomas Voets, Julio L. Alvarez, Peter W. Hellings, Peter H. M. Hoet, Benoit Nemery, Miguel A. Valverde, Karel Talavera   +18 more
doaj   +1 more source

Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions

eLife, 2017
CFTR, the chloride channel mutated in cystic fibrosis (CF) patients, is opened by ATP binding to two cytosolic nucleotide binding domains (NBDs), but pore-domain mutations may also impair gating.
Ben Sorum, Beáta Töröcsik, László Csanády   +2 more
doaj   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Mechanochemical Synthesis and Characterization of Nanostructured ErB4 and NdB4 Rare‐Earth Tetraborides

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur, Faruk Kaya, Bora Derin, Mustafa Lütfi Öveçoğlu, Ju Li, Duygu Ağaoğulları   +5 more
wiley   +1 more source

Monoclonal Antibodies Targeting Ion Channels and Their Therapeutic Potential

Frontiers in Pharmacology, 2019
Monoclonal antibodies (mAbs) represent a rapidly growing pharmaceutical class of protein drugs that becomes an important part of the precision therapy. mAbs are characterized by their high specificity and affinity for the target antigen, which is mostly ...
Aurélien Haustrate, Aline Hantute-Ghesquier, Natalia Prevarskaya, V’yacheslav Lehen’kyi, V’yacheslav Lehen’kyi   +4 more
doaj   +1 more source

Light‐Assisted 3D Printing Techniques and Photocrosslinking Strategies: Recent Advances in Musculoskeletal Tissue Engineering

Advanced Engineering Materials, EarlyView.
In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley   +1 more source