Article
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Human mutation - 1 May 2017
Mendes Marisa I, Smith Desirée Ec, Pop Ana, Lennertz Pascal, Fernandez Ojeda Matilde R, Kanhai Warsha A, van Dooren Silvy Jm, Anikster Yair, Barić Ivo, Boelen Caroline, Campistol Jaime, de Boer Lonneke, Kariminejad Ariana, Kayserili Hulya, Roubertie Agathe, Verbruggen Krijn T, Vianey-Saban Christine, Williams Monique, Salomons Gajja S
Abstract excerpt
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 cells. Enzyme...
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