Open access
Jul 2026
A C. elegans model for functional analysis of conserved ADPKD variants in cilia, extracellular vesicles, and sensory signaling.
It is concluded that PC2C331S may perturb protein stability and/or polycystin complex formation prior to ciliary/EV trafficking and a C. elegans pipeline for mechanistic classification of conserved ADPKD-associated missense variants is established.
Juan Wang, Carlos Nava Cruz, Jonathon D. Walsh et al.
· Genetics · 0 citations