Associated Papers
Ubap1 knock-in mice reproduced the phenotype of SPG80.
Shimozono K et al.
Journal of Human Genetics, 2022
Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.
Zhang C et al.
Frontiers in Neurology, 2022
A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.
Li P et al.
Frontiers in Genetics, 2022
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T et al.
European Journal of Human Genetics : Ejhg, 2020
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.
Nan H et al.
Journal of Human Genetics, 2019
Select a paper to view details