Work

A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma

Year: 2024

Type: article

Abstract: Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK [MIM 600231]) is characterized by thickening of the epidermis in palms and soles with a barrier defect. Missense variants within the AQP5 gene, encoding the water channel protein Aquaporin-5 (AQP5), are the underlying genetic cause of this autosomal dominant genodermatosis. AQP5 is highly expressed in sweat glands and localises to the plasma membrane of suprabasal keratinocytes in the palmoplantar epidermis (Blaydon et al, 2013). Here, diffuse NEPPK biopsies and patient-derived keratinocyte cell lines, obtained with written, informed consent and approved by the research ethics committees of the National Health Service (08/H1102/73) and Umeå University, were used to investigate the biological role of epidermally-expressed AQP5.

Source: Journal of Investigative Dermatology

DOI: 10.1016/j.jid.2024.02.028

Authors: Laura Ramos del Caño, Andrew P. South, Edel A. O’Toole, David P. Kelsell, Diana C. Blaydon

Institutions: Queen Mary University of London, Blizard Institute, Thomas Jefferson University

Language: English

Topic: Ion Transport and Channel Regulation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,400