Darier Disease - A Multi-organ Condition?
SERCA2
calcium
endoplasmic reticulum
genodermatosis
rare disease
Darier disease
Journal
Acta dermato-venereologica
ISSN: 1651-2057
Titre abrégé: Acta Derm Venereol
Pays: Sweden
ID NLM: 0370310
Informations de publication
Date de publication:
15 Apr 2021
15 Apr 2021
Historique:
pubmed:
20
2
2021
medline:
24
6
2021
entrez:
19
2
2021
Statut:
epublish
Résumé
Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 is expressed in most tissues, and intracellular calcium homeostasis is of fundamental importance, it is conceivable that other organs besides the skin may be involved in Darier disease. This review focusses on the association of Darier disease with other organ dysfunctions and diseases, emphasizing their common molecular pathology. In conclusion, Darier disease should be considered a systemic condition that requires systemic and disease mechanism targeted treatments.
Identifiants
pubmed: 33606037
doi: 10.2340/00015555-3770
pmc: PMC9364244
doi:
Substances chimiques
Sarcoplasmic Reticulum Calcium-Transporting ATPases
EC 3.6.3.8
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
adv00430Références
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