Articles with "mutation e83q" as a keyword



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A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity

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Published in 2022 at "Science Advances"

DOI: 10.1126/sciadv.abn0044

Abstract: The alpha-synuclein mutation E83Q, the first in the NAC domain of the protein, was recently identified in a patient with dementia with Lewy bodies. We investigated the effects of this mutation on the aggregation of… read more here.

Keywords: nac domain; mutation; alpha synuclein; mutation e83q ... See more keywords