Associated Papers
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.
Grønbæk-Thygesen M et al.
Nature Communications, 2024
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.
Grønbæk-Thygesen M et al.
Cell & Bioscience, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.
George Priya Doss C et al.
Metabolic Brain Disease, 2017
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.
Kocak A et al.
Journal of Molecular Graphics & Modelling, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
Wijayasinghe YS et al.
Biochemistry, 2014
Relationship between enzyme properties and disease progression in Canavan disease.
Zano S et al.
Journal of Inherited Metabolic Disease, 2013
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
Hussain R et al.
Molecular Biology Reports, 2012
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH et al.
Genetic Counseling (geneva, Switzerland), 2012
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Unalp A et al.
Journal of Tropical Pediatrics, 2008
Mutational analysis of aspartoacylase: implications for Canavan disease.
Hershfield JR et al.
Brain Research, 2007
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Janson CG et al.
Annals of Neurology, 2006
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
Tacke U et al.
Neuropediatrics, 2005
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