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Article

Mapping the degradation pathway of a disease-linked aspartoacylase variant.

PLoS genetics - 1 Apr 2021

Gersing Sarah K, Wang Yong, Grønbæk-Thygesen Martin, Kampmeyer Caroline, Clausen Lene, Willemoës Martin, Andréasson Claes, Stein Amelie, Lindorff-Larsen Kresten, Hartmann-Petersen Rasmus

Abstract excerpt

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 greatly reduced protein levels in cells, yet biophysical experiments suggest a wild-type like thermal stability. Here,...

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PMID: 33914734
DOI: 10.1371/journal.pgen.1009539
PMCID: PMC8084241

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