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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2021
Assuntos:
Research Article
Acesso em linha: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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