Article
New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy.
Acta neuropathologica - 1 May 2023
Yang Yang, Garringer Holly J, Shi Yang, Lövestam Sofia, Peak-Chew Sew, Zhang Xianjun, Kotecha Abhay, Bacioglu Mehtap, Koto Atsuo, Takao Masaki, Spillantini Maria Grazia, Ghetti Bernardino, Vidal Ruben, Murzin Alexey G, Scheres Sjors H W, Goedert Michel
Abstract excerpt
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 mutant proteins were present in sarkosyl-insoluble material that was...
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