Associated Papers
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.
Onal G et al.
Journal of Neurochemistry, 2024
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
The interplay between Glucocerebrosidase, α-synuclein and lipids in human models of Parkinson's disease.
Muñoz SS et al.
Biophysical Chemistry, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Insights into GBA Parkinson's disease pathology and therapy with induced pluripotent stem cell model systems.
Baden P et al.
Neurobiology of Disease, 2019
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.
Hollingsworth EW et al.
Embo Molecular Medicine, 2017
Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.
Drugan C et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2017
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?
Santos DM et al.
International Journal of Molecular Sciences, 2017
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
Aflaki E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Chan A et al.
Molecular Genetics and Metabolism, 2011
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0