Results 91 to 100 of about 4,015 (188)

Reduction of the ATPase inhibitory factor 1 (IF1) leads to visual impairment in vertebrates [PDF]

, 2018
In vertebrates, mitochondria are tightly preserved energy producing organelles, which sustain nervous system development and function. The understanding of proteins that regulate their homoeostasis in complex animals is therefore critical and doing so ...
A Ames 3rd, A Genoux, A Olichon, A Olichon, A Van’t Veer, A Vazquez-Martin, A Volkenhoff, AA Zdebik, B Daum, B Thisse, BR Pinho, C Alexander, C Delettre, C Delettre, C Frezza, C Kozlowski, C Lo, D Faccenda, D Faccenda, D Faccenda, D Faccenda, DC Wallace, DI Shah, E Brustein, F Ivanes, F Peri, G Diez-Roux, GJ Lieschke, H Okawa, I Matic, I Matic, I Wittig, J Garcia-Bermudez, J Nakamura, JH Postlethwait, JJ Rahn, K Hejzlarova, KM Davies, L Formentini, L Formentini, L Saint-Amant, LC O’Brien, LGJ Nijtmans, M Bonora, M Campanella, M Campanella, M Okouchi, M Sanchez-Arago, M Sanchez-Arago, M Sanchez-Arago, M Veas-Perez de Tudela, M Westerfield, M Yoshida, MA Calvaruso, MH Madeira, MJ Birket, ML Concha, MW Fox, P Herbomel, PW Ingham, R Domenis, R Martin-Jimenez, S Aijaz, S Barbato, S DiMauro, S Hoppins, S Magdaleno, SA Schrier, SE Brockerhoff, TJ Wilson, V Lefebvre, VH Perry, W Rouslin, XG Luo   +73 more
core   +2 more sources

WONOEP XVII appraisal: Targeting network excitability beyond the synapse ‐Neurotransmitter, ionic, and electro ‐diffusions

Epilepsia, Volume 66, Issue 11, Page 4139-4161, November 2025.
Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire, Marco de Curtis, Jeffrey Noebels, Gilles Huberfeld, Piotr Suffczynski, Vadym Gnatkovsky, Olga Tyurikova, Dominique Durand, David C. Henshall, Cian McCafferty   +9 more
wiley   +1 more source

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia

Movement Disorders
AbstractBackgroundAlthough the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.ObjectiveThe aim is to identify the missing genetic causes of PKD.MethodsPhenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.ResultsWe ...
Wirth, Thomas, Roze, Emmanuel, Delvallée, Clarisse, Trouillard, Oriane, Drouot, Nathalie, Damier, Philippe, Boulay, Clotilde, Bourgninaud, Marine, Jegatheesan, Prasanthi, Sangare, Aude, Forlani, Sylvie, Gaymard, Bertrand, Hervochon, Rémi, Navarro, Vincent, Calmels, Nadège, Schalk, Audrey, Tranchant, Christine, Piton, Amélie, Méneret, Aurélie, Anheim, Mathieu   +19 more
openaire   +3 more sources

KCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb

American Journal of Physiology-Renal Physiology, 2015
The aim of the present study is to examine the role of Kcnj10 (Kir.4.1) in contributing to the basolateral K conductance in the cortical thick ascending limb (cTAL) using Kcnj10+/+ wild-type (WT) and Kcnj10−/− knockout (KO) mice. The patch-clamp experiments detected a 40- and an 80-pS K channel in the basolateral membrane of the cTAL.
Chengbiao, Zhang, Lijun, Wang, Xiao-Tong, Su, Dao-Hong, Lin, Wen-Hui, Wang   +4 more
openaire   +3 more sources

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early‐Onset, Bilateral Meniere's Disease

OTO Open, Volume 9, Issue 4, October-December 2025.
Abstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Keshav V. Shah, Christian Jung, Daniel Talian, Sherrie Davis, Douglas J. Epstein, Michael J. Ruckenstein, Tiffany P. Hwa   +6 more
wiley   +1 more source

Update on the implication of potassium channels in autism: K+ channelautism spectrum disorder

Frontiers in Cellular Neuroscience, 2015
Autism spectrum disorders (ASDs) are characterized by impaired ability to properly implement environmental stimuli that are essential to achieve a state of social and cultural exchange.
Luca eGuglielmi, Ilenio eServettini, Martino eCaramia, Luigi eCatacuzzeno, Fabio eFranciolini, Maria Cristina D'Adamo, Mauro ePessia   +6 more
doaj   +1 more source

Aquaporin-4-dependent K(+) and water transport modeled in brain extracellular space following neuroexcitation. [PDF]

, 2013
Potassium (K(+)) ions released into brain extracellular space (ECS) during neuroexcitation are efficiently taken up by astrocytes. Deletion of astrocyte water channel aquaporin-4 (AQP4) in mice alters neuroexcitation by reducing ECS [K(+)] accumulation ...
Binder, Devin K, Jin, Byung-Ju, Verkman, AS, Zhang, Hua   +3 more
core   +2 more sources

From immune architecture to clinical decision: Insights into the TLS‐based RNA model for metastatic risk in nasopharyngeal carcinoma

Clinical and Translational Discovery, Volume 5, Issue 6, December 2025.
Ciming Sun, Biao Jiang, Kang Ning
wiley   +1 more source

S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse [PDF]

, 2016
Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was detected and exome ...
Buniello, A, Carlisle, F, Chen, J, Dawson, SJ, Ingham, NJ, Isaacson, RL, Lewis, MA, Pass, J, Pearson, S, Steel, KP, White, JK   +10 more
core  

3D Brain Vascular Niche Model Captures Glioblastoma Infiltration, Dormancy, and Gene Signatures

Advanced Science, Volume 12, Issue 33, September 4, 2025.
This study developed a 3D brain vascular niche model that capture the key features of glioblastoma including perivascular infiltration, gene signature, dormancy and chemo resistance, by comparing 3D model with in vivo condition using identical glioma stem cells.
Vivian K. Lee, Rut Tejero, Nathaniel Silvia, Anirudh Sattiraju, Aarthi Ramakrishnan, Li Shen, Alexandre Wojcinski, Santosh Kesari, Roland H. Friedel, Hongyan Zou, Guohao Dai   +10 more
wiley   +1 more source