Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877039 | PMC |
| http://dx.doi.org/10.1016/j.jns.2016.04.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
K currents in ventricular cardiomyocytes of p.N98S-calmodulin mutant mice.
Am J Physiol Heart Circ Physiol
December 2024
Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
Missense mutations in calmodulin (CaM)-encoding genes are associated with life-threatening ventricular arrhythmia syndromes. Here, we investigated a role of cardiac K channel dysregulation in arrhythmogenic long QT syndrome (LQTS) using a knock-in mouse model heterozygous for a recurrent mutation (p.N98S) in the gene (Calm1).
View Article and Find Full Text PDFCustomized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.
Brain
December 2024
Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
DNA-based therapeutics have emerged as a revolutionary approach for addressing the treatment gap in rare inherited conditions by targeting the fundamental genetic causes of disease. Charcot-Marie-Tooth (CMT) disease, a group of inherited neuropathies, represents one of the most prevalent Mendelian disease groups in neurology and is characterized by diverse genetic aetiology. Axonal forms of CMT, known as CMT2, are caused by dominant mutations in >30 different genes that lead to degeneration of lower motor neuron axons.
View Article and Find Full Text PDFCalmodulin mutations affecting Gly114 impair binding to the Na1.5 IQ-domain.
Front Pharmacol
August 2023
Department of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Missense variants in genes encoding the Ca-binding protein calmodulin (CaM) cause severe cardiac arrhythmias. The disease mechanisms have been attributed to dysregulation of RyR2, for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) and/or Ca1.2, for Long-QT Syndrome (LQTS).
View Article and Find Full Text PDFEffect of Neurodegenerative Mutations in the NEFL Gene on Thermal Denaturation of the Neurofilament Light Chain Protein.
Biochemistry (Mosc)
May 2023
Research Centre of Biotechnology, Russian Academy of Sciences, Moscow, 119071, Russia.
Effects of E90K, N98S, and A149V mutations in the light chain of neurofilaments (NFL) on the structure and thermal denaturation of the NFL molecule were investigated. By using circular dichroism spectroscopy, it was shown that these mutations did not lead to the changes in α-helical structure of NFL, but they caused noticeable effects on the stability of the molecule. We also identified calorimetric domains in the NFL structure by using differential scanning calorimetry.
View Article and Find Full Text PDFHuman calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
Hum Mol Genet
June 2023
Department of Chemistry and Bioscience, Aalborg University, Aalborg Ø 9220, Denmark.
In humans, mutations in calmodulin cause cardiac arrhythmia. These mutations disrupt the ability of calmodulin to sense calcium concentrations and correctly regulate two central calcium channels, together obstructing heart rhythm. This correlation is well established, but also surprising since calmodulin is expressed in all tissues and interacts with hundreds of proteins.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!