Article

New <i>SNCA</i> mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy

2022-11-28

Abstract excerpt

<h4>ABSTRACT</h4> 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 that was extracted from frontal cortex of the...

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Literature Corpus work: 0476b490-cb79-5497-aa7e-094cdf2af1a1
DOI: 10.1101/2022.11.23.517690

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