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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...
Autores principales: | Gersing, Sarah K., Wang, Yong, Grønbæk-Thygesen, Martin, Kampmeyer, Caroline, Clausen, Lene, Willemoës, Martin, Andréasson, Claes, Stein, Amelie, Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8084241/ https://www.ncbi.nlm.nih.gov/pubmed/33914734 http://dx.doi.org/10.1371/journal.pgen.1009539 |
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