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RSS FeedsIJMS, Vol. 21, Pages 1418: Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report (International Journal of Molecular Sciences)

 
 

19 february 2020 17:00:43

 
IJMS, Vol. 21, Pages 1418: Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report (International Journal of Molecular Sciences)
 


Calmodulin (CaM) is a ubiquitous intracellular Ca2+ sensing protein that modifies gating of numerous ion channels. CaM has an extraordinarily high level of evolutionary conservation, which led to the fundamental assumption that mutation would be lethal. However, in 2012, complete exome sequencing of infants suffering from recurrent cardiac arrest revealed de novo mutations in the three human CALM genes. The correlation between mutations and pathophysiology suggests defects in CaM-dependent ion channel functions. Here, we review the current state of the field for all reported CaM mutations associated with cardiac arrhythmias, including knowledge of their biochemical and structural characteristics, and progress towards understanding how these mutations affect cardiac ion channel function.


 
185 viewsCategory: Biochemistry, Biophysics, Molecular Biology
 
IJMS, Vol. 21, Pages 1417: Comparative Proteomic Analysis of Wild-Type Physcomitrella Patens and an OPDA-Deficient Physcomitrella Patens Mutant with Disrupted PpAOS1 and PpAOS2 Genes after Wounding (International Journal of Molecular Sciences)
IJMS, Vol. 21, Pages 1412: Characterization of Naturally Occurring Bioactive Factor Mixtures for Bone Regeneration (International Journal of Molecular Sciences)
 
 
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