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Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease.

Experimental dermatology - 1 Jun 2023

Zonfrilli Azzurra, Truglio Federica, Simeone Alessandra, Pelullo Maria, De Turris Valeria, Benelli Dario, Checquolo Saula, Bellavia Diana, Palermo Rocco, Uccelletti Daniela, Screpanti Isabella, Cialfi Samantha, Talora Claudio

Abstract excerpt

Hailey-Hailey disease (HHD) is a rare autosomal dominantly inherited disorder caused by mutations in the ATP2C1 gene that encodes an adenosine triphosphate (ATP)-powered calcium channel pump. HHD is characterized by impaired epidermal cell-to-cell adhesion and defective keratinocyte growth/differentiation. The mechanism by which mutant ATP2C1 causes HHD is unknown and current treatments for affected individuals...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36789506
DOI: 10.1111/exd.14769

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