Open access
Jul 2026
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease
The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.
Maya M. Polovitskaya, T. Tkemaladze, L. Jensen et al.
· EMBO Molecular Medicine · 0 citations