Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
Severe retinal degeneration in a patient with Canavan disease.
Benson MD et al.
Ophthalmic Genetics, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Relationship between enzyme properties and disease progression in Canavan disease.
Zano S et al.
Journal of Inherited Metabolic Disease, 2013
Long-term follow-up after gene therapy for canavan disease.
Leone P et al.
Science Translational Medicine, 2012
Aspartoacylase supports oxidative energy metabolism during myelination.
Francis JS et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2012
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH et al.
Genetic Counseling (geneva, Switzerland), 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Kaya N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Unalp A et al.
Journal of Tropical Pediatrics, 2008
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.
Velinov M et al.
Clinical Genetics, 2008
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Janson CG et al.
Annals of Neurology, 2006