Abstract
Darier’s disease (DD) is an autosomal dominant skin disorder characterized by acantholysis and dyskeratosis associated with mutations in ATP2A2 encoding for the sarco/endoplasmic reticulum Ca2+-ATPase pump type 2 (SERCA2), resulting in patients being functionally haploinsufficient for SERCA2. DD keratinocytes displayed a 1.5-fold increase in Ca2+ levels above that observed in control keratinocytes. This Ca2+ imbalance negatively influenced localization of protein constituents of the cell-cell adhesive junction, the desmosome, resulting in decreased desmosome function and loss of epidermal integrity.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
