Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease.

Abstract excerpt

Canavan disease is caused by mutations in the ASPA gene, leading to diminished catalytic activity of aspartoacylase in the brain. Clinical missense mutations are found throughout the enzyme structure, with many of these mutated enzymes having not only decreased activity but also compromised stability. High-throughput screening of a small molecule library has identified several compounds that significantly...

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