Genetic & Genomic MedicinemedRxivPreprint
Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia
Melanie J. Ludlow, Oleksandr V. Povstyan, Deborah M. Linley…·David J. Beech
The paper identifies and characterizes novel PIEZO1 variants associated with GLD, showing they impair mechanosensitivity and demonstrating small-molecule rescue of channel function.
4 citations