Article
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Nature genetics - 1 Oct 1993
Kaul R, Gao G P, Balamurugan K, Matalon R
Abstract excerpt
Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. We have cloned the human aspartoacylase (ASP) cDNA spanning 1,435 basepairs, and show that the isolated cDNA expresses aspartoacylase activity in bacteria. Furthermore, an A to C base change, at nucleotide 854, has been found in 85% of the 34 Canavan alleles tested...
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