Dataset Information
The α-synuclein hereditary mutation E46K unlocks a more stable, pathogenic fibril structure
Ontology highlight
ABSTRACT:
SUBMITTER: David R. Boyer
PROVIDER: EMPIAR-10494 | biostudies-other |
REPOSITORIES: biostudies-other
Publications
The α-synuclein hereditary mutation E46K unlocks a more stable, pathogenic fibril structure.
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]