Results 81 to 90 of about 5,101 (164)

Human‐derived cardiac‐neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic diagram illustrating the proposed pathway in which regulatory defects might occur in sympathetic neurons derived from hiPSC in catecholaminergic polymorphic ventricular tachycardia (CPVT). Specifically, enhanced calcium transients appeared to derive from three sources: enhanced membrane excitability (due to loss of ...
Ni Li, Chenchen Zhang, Mengying Xu, YoonYoung Choi, Davi Sidarta‐Oliveira, Ruirui Dong, Xinyu Hu, Enrique M. Toledo, Cesar A. Prada‐Medina, Finbar Argus, Kun Liu, Mingyu Li, Linna Zhou, Hagan Bayley, Corey Smith, Chris Denning, Ana I. Domingos, Guoliang Hao, Dan Li, David J. Paterson   +19 more
wiley   +1 more source

Drafting the calmodulation playbook: Emerging structural insights into transient receptor potential channel regulation by calmodulin

The Journal of Physiology, EarlyView.
Abstract figure legend Calmodulin (CaM) is a ubiquitous calcium (Ca2+) sensor that translates intracellular Ca2+ signals into modulation of hundreds of effector proteins including ion channels. CaM is increasingly recognized as a key regulator of the transient receptor potential (TRP) channel family, yet the underlying ‘calmodulation playbook’ is only ...
Aden M. Alemayhu, Candice E. Paulsen
wiley   +1 more source

KV7.2 channel dysfunction delays neuronal maturation and undermines early network development in a hiPSC model of KCNQ2-DEE

Neurobiology of Disease
KCNQ2 developmental and epileptic encephalopathy (KCNQ-DEE), is caused predominantly by dominant-negative loss-of-function variants in the KCNQ2 gene, leading to neonatal-onset epileptic seizures and profound neurodevelopmental impairment.
Filip Rosa, Stephan Theiss, Susanne Krepp, Heidi Loeffler, Dulini C. Mendis, Stefanie Klingenstein, Stefan Liebau, Sarah Weckhuysen, Michael Alber, Steven Petrou, Holger Lerche, Snezana Maljevic, Thomas V. Wuttke   +12 more
doaj   +1 more source

Multi‐omics analysis of ion channels expressed by chicken embryo vestibular type I and type II hair cells

Experimental Physiology, Volume 111, Issue 10, Page 4894-4914, 1 October 2026.
Abstract Balance and gaze rely on the rapid and accurate detection and signalling of head movements by vestibular type I and type II hair cells. Signal transduction and transmission involve several types of ion channels, which are acquired progressively during hair cell differentiation and whose identity is known only in part.
Giulia Cheli, Roberta Giunta, Francesca Stella, Eleonora Guidi, Umberto Laforenza, Mariarosa Polimeni, Giancarlo Russo, Francesca Borgo, Lazarevic Dejan, Sergio Masetto   +9 more
wiley   +1 more source

Genotype-Phenotype Correlations and Functional Outcomes in Pediatric Patients with KCNQ2-Related Epilepsy: A Multicenter Observational Study in Korea [PDF]

Annals of Child Neurology
Purpose Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic ...
Eon Ah Kim, Mi-Sun Yum, Seungbok Lee, Jae So Cho, Jeehun Lee, Byung Chan Lim   +5 more
doaj   +1 more source

Biophysical and structural mechanisms of epilepsy-associated mutations in the S4-S5 Linker of KCNQ2 channels

Channels
Mutations in KCNQ2 are linked to various neurological disorders, including neonatal-onset epilepsy. The severity of these conditions often correlates with the mutation’s location and the biochemical properties of the altered amino acid side chains.
Inn-Chi Lee, Yen-Yu Yang, Hsueh-Kai Chang, Swee-Hee Wong, Shi-Bing Yang   +4 more
doaj   +1 more source

MLe-KCNQ2: An artificial intelligence model for the prognosis of missense KCNQ2 gene variants [PDF]

This article belongs to the Special Issue Ion Conductance and Ion Regulation in Human Health and Disease.Despite the increasing availability of genomic data and enhanced data analysis procedures, predicting the severity of associated diseases remains ...
Aitor Bergara, Muguruza-Montero, Arantza, Casis Sáenz, Oscar, Sara M-Alicante, Rodríguez Ballesteros, Oscar, Núñez, Eider, Alicante Martínez, Sara, Lasa Goicuria, Diego, Villarroel, Álvaro, Villarroel Muñoz, Álvaro, Gallego Muñoz, Mónica, Arantza Muguruza-Montero, Alba Saez-Matia, Leonardo Liceranzu, Aritz, Oscar Casis, Alvaro Villarroel, Saez Matia, Alba, Carmen Fons, Oscar R. Ballesteros, Aritz Leonardo, Fons, Carmen, Markel G. Ibarluzea, Mónica Gallego, Saez-Matia, Alba, Gallego, Mónica, Lasa-Goicuria, Diego, García Ibarluzea, Markel, Ballesteros, Oscar R., Ibarluzea, Markel G., Leonardo, Aritz, Núñez Viadero, Eider, Muguruza Montero, Arantza, Bergara, Aitor, Eider Nuñez, Ramis, Rafael, M-Alicante, Sara, Rafael Ramis, Casis, Óscar, Bergara Jauregui, Aitor, Diego Lasa-Goicuria   +39 more
core   +1 more source

Ionic Permeation and Conduction Properties of Neuronal KCNQ2/KCNQ3 Potassium Channels [PDF]

, 2004
Heteromeric KCNQ2/3 potassium channels are thought to underlie the M-current, a subthreshold potassium current involved in the regulation of neuronal excitability.
Marrion, Neil V., Prole, David L.
core   +1 more source

Noise-induced plasticity of KCNQ2/3 and HCN channels underlies vulnerability and resilience to tinnitus

eLife, 2015
Vulnerability to noise-induced tinnitus is associated with increased spontaneous firing rate in dorsal cochlear nucleus principal neurons, fusiform cells.
Shuang Li, Bopanna I Kalappa, Thanos Tzounopoulos   +2 more
doaj   +1 more source

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

, 2008
OBJECTIVE: To explore the involvement of M-type potassium channels KCNQ2, Q3, and Q5 in the pathogenesis of common idiopathic epilepsies. METHODS: Sequence analysis of the KCNQ2, Q3, and Q5 coding regions was performed in a screening sample consisting of
Müller, U., Fiedler, B., Eberhard, F., Muhle, H., Stephani, U., Neubauer, Bernd A.,, Kurlemann, G., Hahn, A., Waldegger, S., Garkisch, S., Heinzinger, J., Eeg-Olofsson, Orvar,, Sander, T.   +12 more
core   +1 more source