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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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
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). This mutation translates into the insertion of MAAAEKT after residue 22 of α-synuclein, resulting in a protein of 147 amino acids. Both wild-type and mut...
Alternative Titles
Full title
New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10119069
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10119069
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-023-02550-8
