Article

Evolutionarily conserved chaperone-mediated proteasomal degradation of a disease-linked aspartoacylase variant

2020-09-04

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. Her...

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Literature Corpus work: dbb9cf34-6491-5d8c-945e-f871e87a2ad1
DOI: 10.1101/2020.09.04.283028

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