Title : Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.

Pub. Date : 2014 Aug 5

PMID : 25003821






1 Functional Relationships(s)
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1 Canavan disease (CD) is a fatal, childhood neurological disorder caused by mutations in the ASPA gene, leading to catalytic deficiencies in the aspartoacylase (ASPA) enzyme and impaired N-acetyl-l-aspartic acid metabolism in the brain. N-acetylaspartate aspartoacylase Homo sapiens