Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases
Abstract
Proteases are essential enzymes that, through the breakdown of proteins, regulate many aspects of tissue homeostasis including barrier function, cellular signaling, and tissue repair mechanisms in organisms. Disease gene discovery in a number of monogenic skin diseases has deepened the knowledge of how proteases and protease inhibitors can regulate skin homeostasis, keratinocyte desmosome-mediated cell adhesion, and epidermal barrier function. This short review details the association of protease dysregulation with monogenic skin diseases, postulated disease mechanisms, and emerging therapeutic strategies.
Fields of Study & Subjects
Skin and Cellular Biology Research
Coagulation
Bradykinin
Polyphosphates
and Angioedema
Dermatological and Skeletal Disorders
Publication details
- Journal / source
- Cell and Tissue Research
- Publisher
- Springer Science and Business Media LLC
- Volume
- 403
- Issue
- 3
- Publication date
- 1 March 2026
- Language
- EN