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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. ...
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
(
Portland Press Ltd
, 2024 , Article)
Homocystinuria is a rare disease caused by mutations in the CBS gene that results in a deficiency of cystathionine β-synthase (CBS). CBS is an essential pyridoxal 50-phosphate (PLP)-dependent enzyme in the transsulfuration ...