Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412892/
https://www.ncbi.nlm.nih.gov/pubmed/28101991
http://dx.doi.org/10.1002/humu.23181

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