Article
A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.
Molecular genetics and metabolism - 1 Nov 2023
Fenton Adam R, Janowitz Haley N, Franklin Latisha P, Young Riley G, Moro Corinna A, DeGennaro Michael V, McReynolds Melanie R, Wang Wenqing, Hanna-Rose Wendy
Abstract excerpt
Inborn errors of purine metabolism are rare syndromes with an array of complex phenotypes in humans. One such disorder, adenylosuccinate lyase deficiency (ASLD), is caused by a decrease in the activity of the bi-functional purine biosynthetic enzyme adenylosuccinate lyase (ADSL). Mutations in human ADSL cause epilepsy, muscle ataxia, and autistic-like symptoms. Although the genetic basis of ASLD is known, the...
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