Investigation of a Large Kindred Reveals Cardiac Calsequestrin ( CASQ2 ) as a Cause of Brugada Syndrome.

Maria d'Apolito Francesco Santoro Alessandra RanaldiIlaria RagnatelaAnna Laura ColiaSara CannitoAlessandra MargaglioneGirolamo D'ArienzoGiovanna D'AndreaPierLuigi PellegrinoRosa SantacroceNatale Daniele BrunettiMaurizio Margaglione

Published in: Genes (2024)

Our data suggest that the p.Tyr178His substitution is associated with BrS in the family investigated, affecting the stability of the protein, disrupting filamentation at the interdimer interface, and affecting the subsequent formation of tetramers and polymers that contain calcium-binding sites.

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