Possible role of endoplasmic reticulum stress in the pathogenesis of Darier's disease

T Onozuka, D Sawamura, M Goto, K Yokota… - Journal of …, 2006 - jdsjournal.com
Darier's disease (DD, keratosis follicularis; OMIM 124200) is an autosomal dominant
genodermatosis characterized by persistent, greasy, scaly papules which show
abnormalities in keratinocyte adhesion and differentiation including acantholysis,
suprabasal clefting, and unusual dyskeratosis. Mutations within the ATP2A2 gene encoding
the sarco/endoplasmic reticulum Ca2+ ATPase type 2 (SERCA2) are found in DD patients,
indicating that SERCA2 plays an important role in keratinocyte adhesion and differentiation …