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
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
35928447 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_TableS2
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
Bian X et al.
Plos One, 2021
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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