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Mutations in PLCδ1 associated with hereditary leukonychia display divergent PIP2 hydrolytic function
(
Blackwell Publishing Ltd
, 2016 , Article)
Hereditary leukonychia is a rare genetic nail disorder characterized by distinctive whitening of the nail plate of all 20 nails. Hereditary leukonychia may exist as an isolated feature, or in simultaneous occurrence with ...
Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish
(
Wiley
, 2019 , Article)
Calmodulin (CaM) is a universal calcium (Ca )-binding messenger that regulates many vital cellular events. In cardiac muscle, CaM associates with ryanodine receptor 2 (RyR2) and regulates excitation-contraction coupling. ...
Calmodulin Interacts and Regulates Enzyme Activity of the Mammalian Sperm Phospholipase C
(
Elsevier
, 2017 , Article)
Sperm-specific Phospholipase C zeta (PLCζ) is widely considered to be the sole, physiological stimulus responsible for the generation of Ca2+ oscillations that induce egg activation and early embryo development during ...
The Arrhythmogenic E105A CAM Mutation Dysregulates Normal Cardiac Function in Zebrafish by Altering CAM-Ca2+ and CAM-RyR2 Interactions
(
Elsevier
, 2019 , Article)
Calmodulin (CaM) is a multifunctional calcium (Ca2+)-binding messenger that directly interacts with the cardiac ryanodine receptor 2 (RyR2), a large transmembrane Ca2+ channel that mediates Ca2+ release from the sarcoplasmic ...
Defective Interaction of Cam with RyR2 Cam-Binding Pocket Might Contribute to Arrhythmogenic Cardiac Disease
(
Elsevier
, 2020 , Article)
Ryanodine receptor 2 (RyR2) is a large transmembrane calcium (Ca2+) release channel that mediates Ca2 release from the sarcoplasmic reticulum to activate cardiac muscle contraction. Calmodulin (CaM) regulation of RyR2 is ...
Arrhythmia-Associated Calmodulin E105A Mutation Alters the Binding Affinity of CaM to a Ryanodine Receptor 2 CaM-Binding Pocket
(
MDPI
, 2023 , Article)
Calmodulin (CaM) is a small, multifunctional calcium (Ca2+)-binding sensor that binds and regulates the open probability of cardiac ryanodine receptor 2 (RyR2) at both low and high cytosolic Ca2+ concentrations. Recent ...