Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions
Author:
Publisher
Elsevier BV
Subject
General Medicine,Biochemistry
Reference82 articles.
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4. Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI;Janson;Neuropediatrics,2006
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1. Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants;Nature Communications;2024-05-13
2. Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease;Cell & Bioscience;2024-04-06
3. Characterization of isomeric acetyl amino acids and di‐acetyl amino acids by LC/MS/MS;Journal of Mass Spectrometry;2023-11-29
4. NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model;Journal of Inherited Metabolic Disease;2023-11-27
5. Deep mutational scanning reveals a tight correlation between protein degradation and toxicity of thousands of non-native aspartoacylase protein variants;2023-10-02
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