Associated Papers
Lysosomal and mTORC1 signaling dysregulation underpin the pathology of spastic paraplegia type 80.
Zhi Y et al.
Nature Communications, 2025
Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.
Zhang C et al.
Frontiers in Neurology, 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
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.
Wang J et al.
Neurogenetics, 2020
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
Lin X et al.
Brain : a Journal of Neurology, 2019
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