New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy
New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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English
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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A 21-nucleotide duplication in one allele of SNCA was identified in a previously described disease with abundant α-synuclein inclusions that we now call juvenile-onset synucleinopathy (JOS). Both wild-type α-synuclein and its insertion mutant containing seven additional residues (MAAAEKT) after residue 22 were present in sarkosyl-insoluble material...
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Full title
New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy
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TN_cdi_proquest_journals_2740678188
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2740678188
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E-ISSN
2692-8205
DOI
10.1101/2022.11.23.517690
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https://www.proquest.com/docview/2740678188?pq-origsite=primo&accountid=13902
