Ciliopathy-associated missense mutations in IFT140 are hypomorphic and have edgetic effects on protein interaction networks
T. Leonhard, G. D. Diwan, F. Klose, I. F. Stehle, K. Junger, M. Seda, S. Bolz, F. Woerz, R. B. Russell, K. Boldt, D. Jenkins, M. Ueffing, T. Beyer
This study investigates how missense mutations in IFT140 affect protein interactions and complex stability, revealing hypomorphic and edgetic effects in ciliopathy-related diseases.
bioRxiv · Jan 18, 2023Cell Biology