Results 101 to 110 of about 804,799 (296)

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

Ion channels [PDF]

BMJ, 1997
M E, Laniado, P D, Abel, , Lalani el-N
openaire   +2 more sources

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

Endoplasmic Reticulum Calcium Signaling in Hippocampal Neurons

Biomolecules
The endoplasmic reticulum (ER) is a key organelle in cellular homeostasis, regulating calcium levels and coordinating protein synthesis and folding. In neurons, the ER forms interconnected sheets and tubules that facilitate the propagation of calcium ...
Vyacheslav M. Shkryl
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

Analgesic Effects of Triterpenoid Saponins From Stauntonia chinensis via Selective Increase in Inhibitory Synaptic Response in Mouse Cortical Neurons

Frontiers in Pharmacology, 2018
Triterpenoid saponins from Stauntonia chinensis (TSS) are potential therapeutic agents because of its analgesic properties. However, the underlying mechanisms of the anti-nociceptive activity of TSS are largely unclear, especially in CNS.
Su Chen, Yi Rong, Mengxue Liu, Song Cheng, Xiangming Liu, Xiaohong Li, Yi Yu, Guangzhong Yang, Xiaofei Yang   +8 more
doaj   +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

Regulation of mitochondrial potassium BKCa channel by naringenin derivatives: application of a new cellular model

European Journal of Medicinal Chemistry Reports
Mitochondrial potassium (mitoK) channels play a crucial role in mitochondrial and cellular physiology. One of the best described mitoK channels is the mitochondrial large-conductance calcium-activated potassium (mitoBKCa) channel.
Aleksandra Sęk, Silvia Cammarone, Rafał P. Kampa, Karolina Pytlak, Barbara Kalenik, Joanna Lewandowska, Francesca Ghirga, Isabella Romeo, Omar Atrooz, Piotr Bednarczyk, Adam Szewczyk, Bruno Botta, Deborah Quaglio, Bogusz Kulawiak   +13 more
doaj   +1 more source

Thermoreflectance Detection of Point Defects Resulting from Focused Ion Beam Milling

Advanced Engineering Materials, EarlyView.
Focused ion beam (FIB) milling is a common tool for nanoscale material processing, however irradiation damage, redeposition, and contamination can occur. We use several characterization tools to show FIB‐induced effects beyond 1 mm from the milled area.
Thomas W. Pfeifer, Eric R. Hoglund, Anton V. Ievlev, Patrick E. Hopkins   +3 more
wiley   +1 more source

Mepyramine targets mutant Nav1.7 channels to relieve pain and erythema in primary erythromelalgia patients

Frontiers in Medicine
Gain-of-function mutations in SCN9A, which encodes the Nav1.7 voltage-gated sodium channel, are known to cause primary erythromelalgia (PEM). This condition is characterized by recurrent episodes of erythema, burning pain, and warmth in the extremities ...
Myriam Ducrocq, Myriam Ducrocq, Virginie Penalba, Virginie Penalba, Laura Castillo, Laura Castillo, Christine Bodemer, Céline Greco, Patrick Delmas, Patrick Delmas   +9 more
doaj   +1 more source