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A <i>Caenorhabditis elegans</i> model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology

2017-08-29

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 syndrome is known...

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Literature Corpus work
05dbbf2b-c3b9-509b-934b-34ca7863009e
DOI
10.1101/181719
Open publication

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A <i>Caenorhabditis elegans</i> model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiologyDOI 10.1101/181719
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