Peer-reviewed veterinary case report
Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodystrophy in Canavan Disease Mice.
- Journal:
- Annals of neurology
- Year:
- 2021
- Authors:
- Wang, Yan et al.
- Affiliation:
- Institute for Pediatric Regenerative Medicine · United States
- Species:
- rodent
Abstract
Canavan disease is caused by ASPA mutations that diminish brain aspartoacylase activity, and it is characterized by excessive brain storage of the aspartoacylase substrate, N-acetyl-l-aspartate (NAA), and by astroglial and intramyelinic vacuolation. Astroglia and the arachnoid mater express sodium-dependent dicarboxylate transporter (NaDC3), encoded by SLC13A3, a sodium-coupled transporter for NAA and other dicarboxylates. Constitutive Slc13a3 deletion in aspartoacylase-deficient Canavan disease mice prevents brain NAA overaccumulation, ataxia, and brain vacuolation. ANN NEUROL 2021;90:845-850.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/34498299/