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The α-synuclein hereditary mutation E46K unlocks a more stable, pathogenic fibril structure

ABSTRACT:

SUBMITTER: David R. Boyer

PROVIDER: EMPIAR-10494 | biostudies-other |

REPOSITORIES: biostudies-other

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The α-synuclein hereditary mutation E46K unlocks a more stable, pathogenic fibril structure.

Boyer David R DR Li Binsen B Sun Chuanqi C Fan Weijia W Zhou Kang K Hughes Michael P MP Sawaya Michael R MR Jiang Lin L Eisenberg David S DS

Proceedings of the National Academy of Sciences of the United States of America 20200203 7

Aggregation of α-synuclein is a defining molecular feature of Parkinson's disease, Lewy body dementia, and multiple systems atrophy. Hereditary mutations in α-synuclein are linked to both Parkinson's disease and Lewy body dementia; in particular, patients bearing the E46K disease mutation manifest a clinical picture of parkinsonism and Lewy body dementia, and E46K creates more pathogenic fibrils in vitro. Understanding the effect of these hereditary mutations on α-synuclein fibril structure is f ...[more]

PMID: 32015135

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