Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2.

Matthew J Wleklinski Dmytro O Kryshtal Kyungsoo KimShan S ParikhDaniel J BlackwellIsabelle MartyV Ramesh IyerBjörn C Knollmann

Published in: Circulation research (2022)

variants, K180R impairs the dynamic buffering of Ca within the SR without affecting total SR Ca content or Casq2 protein levels. Our data provide insight into the molecular mechanism underlying autosomal dominant CPVT2.

Keyphrases

protein kinase
electronic health record
copy number
amino acid
dna methylation
small molecule
artificial intelligence