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Cockayne
/ kɒˈkeɪn /
Example Sentences
He continued: "The development of therapeutic drugs has not progressed because we have not fully understood the causes of AMeD syndrome and Cockayne syndrome. This study suggests that the patient's pathological condition is related to DPC derived from aldehydes generated within cells. These results are expected to help in the search for compounds that remove aldehydes, thus aiding in the formulation of therapeutic drug candidates."
Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms.
Researchers from the group of biochemist Professor Julian Stingele from LMU's Gene Center Munich have now uncovered important details about the role of the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
"The fact that CS proteins have additional functions is noteworthy. This discovery could help to explain the pathological differences between xeroderma pigmentosum and Cockayne syndrome," says Stingele.
But despite her brilliant efforts, historian Emily Cockayne tells the BBC that Gladys received no recognition for being "fundamental and instrumental in the case".
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