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Article

Impaired calcium signalling and neuropsychiatric disorders in Darier disease: An exploratory review.

Experimental dermatology - 1 Sept 2022

Ambur Austin, Zaidi Asma, Dunn Charles, Nathoo Rajiv

Abstract excerpt

Darier (Darier-White) disease (DD) is an autosomal dominant skin disorder caused by pathogenic mutations in the ATP2A2 gene which encodes a calcium ATPase in the sarco-endoplasmic reticulum (SERCA2). Defects in the SERCA2 protein lead to an impairment of cellular calcium homeostasis, which in turn, triggers cell death pathways. There is a high prevalence of neuropsychiatric disorders in patients affected by this...

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PMID: 35801378
DOI: 10.1111/exd.14642

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