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Article

Ubap1 knock-in mice reproduced the phenotype of SPG80.

Journal of human genetics - 1 Dec 2022

Shimozono Keisuke, Nan Haitian, Hata Takanori, Saito Kozo, Kim Yeon-Jeong, Nagatomo Hiroaki, Ohtsuka Toshihisa, Koizumi Schuichi, Takiyama Yoshihisa

Abstract excerpt

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 plays a role in endosome sorting by binding to ubiquitin-tagged proteins. In this study, we generated novel...

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Identifiers

PMID: 35962060
DOI: 10.1038/s10038-022-01073-6
PMCID: PMC9691459

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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