Article
A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity.
Science advances - 29 Apr 2022
Kumar Senthil T, Mahul-Mellier Anne-Laure, Hegde Ramanath Narayana, Rivière Gwladys, Moons Rani, Ibáñez de Opakua Alain, Magalhães Pedro, Rostami Iman, Donzelli Sonia, Sobott Frank, Zweckstetter Markus, Lashuel Hilal A
Abstract excerpt
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 aSyn monomers and the structure, morphology, dynamic, and seeding activity of the aSyn fibrils in neurons. We found that it markedly accelerates aSyn fibrillization and results in the formation of...
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