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
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
Bian X et al.
Plos One, 2021
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
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Gu S et al.
Human Mutation, 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
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
Lin X et al.
Brain : a Journal of Neurology, 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA et al.
American Journal of Human Genetics, 2019
Select a paper to view details