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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS Genet
Prif Awduron: Gersing, Sarah K., Wang, Yong, Grønbæk-Thygesen, Martin, Kampmeyer, Caroline, Clausen, Lene, Willemoës, Martin, Andréasson, Claes, Stein, Amelie, Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2021
Pynciau:
Research Article
Mynediad Ar-lein: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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