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
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
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
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
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
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
Novel missense mutation (Y231C) in a turkish patient with canavan disease.
Rady PL et al.
American Journal of Medical Genetics, 1999
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
Matalon R et al.
The Journal of Gene Medicine, 0
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