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Ubap1 knock-in mice reproduced the phenotype of SPG80

SPG80 is a neurodegenerative disorder characterized by a pure type of juvenile-onset hereditary spastic paraplegia and is caused by a heterozygous mutation of the UBAP1 (ubiquitin-associated protein 1) gene. UBAP1 is one of the subunits of the endosomal sorting complex required for transport I and p...

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Detalles Bibliográficos
Autores principales: Shimozono, Keisuke, Nan, Haitian, Hata, Takanori, Saito, Kozo, Kim, Yeon-Jeong, Nagatomo, Hiroaki, Ohtsuka, Toshihisa, Koizumi, Schuichi, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691459/
https://www.ncbi.nlm.nih.gov/pubmed/35962060
http://dx.doi.org/10.1038/s10038-022-01073-6