Truncating CYLD pathogenic variants in CYLD cutaneous syndrome distinctly influence CYLD proteostasis and NF-κB signaling

Ádám, Éva and Balázs, Leitgeb and Danis, Judit and Hajdú, Anita and Kelemen, Evelyn and Pál, Margit and Belső, Nóra and Németh, István Balázs and Neil, Rajan and Nagy, Nikoletta and Széll, Márta (2025) Truncating CYLD pathogenic variants in CYLD cutaneous syndrome distinctly influence CYLD proteostasis and NF-κB signaling. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 145 (8). pp. 2094-2098. ISSN 0022-202X

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Abstract

Moreover, enhancing the electrochemical sensor through functionalization may lead to improved analytical performance, particularly in terms of selectivity and specificity. Currently, there is growing interest in quantifying antioxidants in various skin diseases and exploring their associations with disease progression (Abe and Nishizawa, 2021; Zhao et al, 2020). Electrochemistry could provide valuable insights into conditions such as psoriasis, acne vulgaris, and vitiligo (Jaffri, 2023). In conclusion, electrochemistry shows promise as a simple, reproducible, and noninvasive technique for measuring skin barrier alteration and dysfunction. It demonstrated high sensitivity and specificity in classifying between subjects with AD and those with normal skin, offering, to our knowledge, previously unreported insights into skin parameter assessment and specific markers related to skin hydration and oxidative stress. This presents an opportunity for potential future studies to explore its utility in evaluating skin diseases, treatment efficacy, and potential therapeutic interventions.

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