Associated Papers
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
Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase.
Kots ED et al.
Journal of Chemical Information and Modeling, 2019
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
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH et al.
Genetic Counseling (geneva, Switzerland), 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Molecular basis of Canavan's disease: from human to mouse.
Surendran S et al.
Journal of Child Neurology, 2003
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Elpeleg ON et al.
Journal of Inherited Metabolic Disease, 1999
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
Shaag A et al.
American Journal of Human Genetics, 1995