Skin and Cellular Biology Research

Keratins, vimentin, desmin, and neurofilaments belong to a family of structural proteins called intermediate filaments, which form the cytoskeletal scaffolding that gives cells their mechanical resilience and shape. When mutations disrupt the genes encoding these proteins — or the enzymes and inhibitors that regulate them — the consequences range from catastrophic skin fragility in epidermolysis bullosa to the chronic inflammatory and barrier defects seen in Netherton syndrome and related ichthyoses. Researchers are working to understand precisely how specific keratin isoforms are distributed across different epithelia, how intermediate filaments coordinate with cell adhesion machinery to govern migration and tissue integrity, and why certain mutations produce such variable clinical outcomes even within the same gene. A deeper mechanistic picture could open paths toward targeted therapies for these disorders, many of which currently lack effective treatments.

Works

60,742

Total citations

904,558

Keywords

KeratinsIntermediate FilamentsEpidermolysis BullosaVimentinNetherton SyndromeDesmin