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Male infertility-linked point mutation reveals a vital binding role for the C2 domain of sperm PLC?
(
Portland Press Ltd
, 2017 , Article)
Sperm-specific phospholipase C zeta (PLC?) is widely considered to be the physiological stimulus that evokes intracellular calcium (Ca2+) oscillations that are essential for the initiation of egg activation during mammalian ...
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 ...
Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function.
(
Oxford University Press
, 2020 , Article)
The cardiac ryanodine receptor (RyR2), which mediates intracellular Ca2+ release to trigger cardiomyocyte contraction, participates in development of acquired and inherited arrhythmogenic cardiac disease. This study was ...
Phospholipase C zeta profiles are indicative of optimal sperm parameters and fertilisation success in patients undergoing fertility treatment.
(
wiley
, 2020 , Article)
Oocyte activation is driven by intracellular calcium (Ca ) oscillations induced by sperm-specific PLCζ, abrogation of which causes oocyte activation deficiency in humans. Clinical PLCζ investigations have been limited to ...
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. ...
Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation
(
American Heart Association
, 2021 , Article)
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia is a rare disease, manifested by syncope or sudden death
in children or young adults under stress conditions. Mutations in the Ca2+ release channel/type 2 ...
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 ...
Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket
(
Elsevier
, 2023 , Article)
Calmodulin (CaM) modulates the activity of several proteins that play a key role in excitation-contraction coupling (ECC). In cardiac muscle, the major binding partner of CaM is the type-2 ryanodine receptor (RyR2) and ...
Antigen Unmasking Is Required to Clinically Assess Levels and Localisation Patterns of Phospholipase C Zeta in Human Sperm
(
MDPI
, 2023 , Article)
Mammalian oocyte activation is initiated by intracellular calcium (Ca2+) oscillations, driven by the testis-specific phospholipase C zeta (PLCζ). Sperm PLCζ analysis represents a diagnostic measure of sperm fertilisation ...