Spastic paraplegia
2 papers1 finding
- Humans2
Upstream
1SARS1
upin humans1
1 study
SARS1
upin humans1
SARS1 induces spastic paraplegia in humans.
“Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence”
Humansde novo splice site deletion in SARS1
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
Journal of medical geneticsAug 30, 2022
Latest
American Journal of Human Genetics
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
Cohort study of 13 peopleMechanisms
Journal of Medical Genetics
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
Case reportCellular senescence
Microbial Cell
Mitochondrial energy metabolism is required for lifespan extension by the spastic paraplegia-associated protein spartin
Experiments in cellsMechanisms
Journal of Cell Science
Beneficial effects of rapamycin in a Drosophila model for hereditary spastic paraplegia
Experiments in model organismsInterventions