New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy

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 protei...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119069/
https://www.ncbi.nlm.nih.gov/pubmed/36847833
http://dx.doi.org/10.1007/s00401-023-02550-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119069/
https://www.ncbi.nlm.nih.gov/pubmed/36847833
http://dx.doi.org/10.1007/s00401-023-02550-8

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