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Investigation of epilepsy-related genes in a Drosophila model.
Neural Regen Res
December 2024
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Complex genetic architecture is the major cause of heterogeneity in epilepsy, which poses challenges for accurate diagnosis and precise treatment. A large number of epilepsy candidate genes have been identified from clinical studies, particularly with the widespread use of next-generation sequencing. Validating these candidate genes is emerging as a valuable yet challenging task.
View Article and Find Full Text PDFProton-Mediated PIEZO2 Channelopathy: Linking Oxaliplatin Treatment to Impaired Proprioception and Cognitive Deficits.
Cancers (Basel)
November 2024
Department of Health Sciences and Sport Medicine, Hungarian University of Sports Science, 1123 Budapest, Hungary.
Oxaliplatin induces acute neuropathy within a few hours post-treatment, with symptoms persisting for several days. Delayed onset muscle soreness also causes the delayed onset of mechanical pain sensation starting at about 6-8 h and lasting up to a week after exercise. Both conditions come with impaired proprioception and could be chronic if these bouts are repeated frequently.
View Article and Find Full Text PDFDistinct modulation of calcium-activated chloride channel TMEM16A by drug-binding sites.
Proc Natl Acad Sci U S A
December 2024
Channelopathy Research Center, Dongguk University College of Medicine, Goyang 10326, Republic of Korea.
Article Synopsis
- * Using magnolol and honokiol, researchers identified two distinct drug-binding sites on TMEM16A—one in the pore region and another nonpore pocket, each interacting differently with the channel.
- * The study highlights that out of 17 inhibitors tested, a majority acted as pore blockers, revealing the significance of the nonpore pocket and informing future drug development strategies.
Structures of TASK-1 and TASK-3 K2P channels provide insight into their gating and dysfunction in disease.
Structure
January 2025
Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK; OXION Initiative in Ion Channels and Disease, University of Oxford, Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK. Electronic address:
TASK-1 and TASK-3 are pH-sensitive two-pore domain (K2P/KCNK) K channels. Their functional roles make them promising targets for treatment of multiple disorders including sleep apnea, pain, and atrial fibrillation. Mutations in these channels are also associated with neurodevelopmental and hypertensive disorders.
View Article and Find Full Text PDFThe Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.
Int J Mol Sci
November 2024
Institute of Physiology, Department of Cellular and Translational Physiology, Ruhr-University Bochum, 44801 Bochum, Germany.
Article Synopsis
- Cardiac channelopathies are inherited genetic disorders that increase the likelihood of sudden cardiac death, with some subtypes having unknown genetic causes.
- Researchers are utilizing various models, particularly human-induced pluripotent stem-cell-derived cardiomyocytes (hiPSCs-CMs), to explore the mechanisms behind these disorders and their genotype-phenotype correlations.
- Innovative techniques like CRISPR/Cas9 genome editing and 3D engineered heart tissues are being combined to enhance drug screening and develop personalized treatment options for conditions like Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
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