Mapping the degradation pathway of a disease-linked aspartoacylase variant

Canavan disease is a severe progressive neurodegenerative disorder that is characterized by swelling and spongy degeneration of brain white matter. The disease is genetically linked to polymorphisms in the aspartoacylase (ASPA) gene, including the substitution C152W. ASPA C152W is associated with gr...

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Udgivet i:PLoS Genet
Main Authors: Gersing, Sarah K., Wang, Yong, Grønbæk-Thygesen, Martin, Kampmeyer, Caroline, Clausen, Lene, Willemoës, Martin, Andréasson, Claes, Stein, Amelie, Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2021
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Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8084241/
https://ncbi.nlm.nih.gov/pubmed/33914734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009539
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