The rare genetic disease cystinosis is caused by mutations in the gene for a protein called cystinosin. A team of scientists has now solved the structure of cystinosin and determined how mutations interfere with its normal function, providing insights into the underlying mechanisms and suggesting a way to develop new treatments for the disease.
The new study, published September 15 in Cell, involved a collaborative effort by researchers at UC Santa Cruz, Stanford University, and the University of Texas Southwestern Medical Center, who combined their expertise in three specialized methods for studying protein structure and function: x-ray crystallography, cryogenic electron microscopy (cryo-EM), and double electron-electron resonance (DEER).
“This paper could set a model for how to combine those three areas, along with biochemical assays, to quickly narrow in on how a protein…
