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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
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

Internet

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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