Cell The Molecular Origin of Cystine Disease Genetic Diseases

The new study, published Sept.

"This paper could build a model for how to combine these three areas as well as biochemical analysis to quickly narrow down the functional range of proteins and identify therapeutic strategies," said Glenn Millhauser, Distinguished Professor and Chair of Chemistry and Biochemistry at the University of California, Santa Cruz, who is also the corresponding author

Cysteine is a special transporter that plays a vital role

Abnormal accumulation of cystine can cause extensive damage to tissues and organs and can lead to kidney failure, muscle atrophy and other problems

"It's a rare disease, but it can be fatal," Millhauser said

Cystine has a different

However, to understand the structural changes of cystine during transport, a DEER study

"With that, we can figure out the mechanism by which cystine switches between different states, and we can narrow down and determine which protein amino acids drive this transition

These new insights into the molecular mechanisms of cystine transport activity not only provide a more detailed understanding of the pathogenesis of cystine disease, but also provide a possible therapeutic strategy

Similar methods can be used to target other transporters

Xue Guo, Philip Schmiege, Tufa E.