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Scientists unravel the molecular origin of rare genetic disease cystinosis

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.

Research finds molecular origin of genetic disease cystinosis

Research finds molecular origin of genetic disease cystinosis
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UT Southwestern s cryo-EM images shed light on the mechanisms behind Wnt signaling activation

Using UT Southwestern's Cryo-Electron Microscopy Facility, researchers have captured images of an enzyme for Wnt lipidation, which is pivotal to human development and cancer and crucial for Wnt signaling activation.

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