Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia
Melanie J. Ludlow, Oleksandr V. Povstyan, Deborah M. Linley, Silvia Martin‐Almedina, Charlotte Revill, Kevin Cuthbertson, Katie A. Smith, Emily Fay, Elisavet Fotiou, Andrew Bush, Claire L. Hogg, Tobias Linden, Natalie B. Tan, Susan M. White, Esther Dempsey, , 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.
medRxiv · Aug 1, 2023 · PreprintGenetic & Genomic Medicine