[HTML][HTML] Multiple effects of SERCA2b mutations associated with Darier's disease
Darier's disease (DD) is an autosomal dominant disorder caused by mutations in the
ATP2A2 gene, encoding sarco/endoplasmic reticulum Ca 2+-ATPase pump type 2b isoform
(SERCA2b). Although> 100 mutations in the ATP2A2 gene were identified, no apparent
relation between genotype/phenotype emerged. In this work, we analyzed 12 DD-
associated mutations from all of the regions of SERCA2b to study the underlying pathologic
mechanism of DD and to elucidate the role of dimerization in SERCA2b activity. Most …
ATP2A2 gene, encoding sarco/endoplasmic reticulum Ca 2+-ATPase pump type 2b isoform
(SERCA2b). Although> 100 mutations in the ATP2A2 gene were identified, no apparent
relation between genotype/phenotype emerged. In this work, we analyzed 12 DD-
associated mutations from all of the regions of SERCA2b to study the underlying pathologic
mechanism of DD and to elucidate the role of dimerization in SERCA2b activity. Most …
