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Article

Relationship between enzyme properties and disease progression in Canavan disease.

Journal of inherited metabolic disease - 1 Jan 2013

Zano Stephen, Wijayasinghe Yasanandana S, Malik Radhika, Smith Joshua, Viola Ronald E

Abstract excerpt

Canavan disease (CD) is a fatal neurological disorder caused by defects in the gene that encodes for a critical metabolic enzyme. The enzyme aspartoacylase catalyzes the deacetylation of N-acetylaspartate to produce acetate required for fatty acid biosynthesis in the brain. The loss of aspartoacylase activity leads to the demyelination and disrupted brain development that is found in CD patients. Sixteen...

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Identifiers

PMID: 22850825
DOI: 10.1007/s10545-012-9520-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Relationship between enzyme properties and disease progression in Canavan disease.PMID 22850825Read ↗

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Deep mutational scanning reveals a tight correlation between protein degradation and toxicity of thousands of non-native aspartoacylase protein variantsSemantic proximity Read ↗

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