Associated Papers
Lysosomal and mTORC1 signaling dysregulation underpin the pathology of spastic paraplegia type 80.
Zhi Y et al.
Nature Communications, 2025
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.
Wei Q et al.
Molecular Genetics & Genomic Medicine, 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
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.
Wang J et al.
Neurogenetics, 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
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