Thursday, September 15, 2022

molecular origin of the genetic disease cystinosis revealed

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.

from Latest Science News -- ScienceDaily https://ift.tt/HD4eOE9

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