Results 191 to 200 of about 25,057 (208)

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease

open access: yesGenes, 2021
Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson’s disease (PD) with frequency between 5% and 20% across the world.
Mikhail Nikolaev   +2 more
exaly   +2 more sources

GBA Variants and Parkinson Disease: Mechanisms and Treatments [PDF]

open access: yesCells, 2022
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have mutations in the GBA gene, making it numerically the most important genetic risk factor for ...
Laura Smith
exaly   +2 more sources

Prevalence and genotype–phenotype correlations of GBA-related Parkinson disease in a large Chinese cohort

European Journal of Neurology, 2022
Weiguo Liu, Jingru Ren, Chenxi Pan
exaly  

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Frontiers in Aging Neuroscience, 2023
Weiguo Liu, Jingru Ren, Huifen Zheng
exaly  

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

Movement Disorders, 2020
Marc Tittgemeyer   +2 more
exaly  

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease

International Journal of Molecular Sciences, 2023
Sofya Pchelina   +2 more
exaly  

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk

Movement Disorders, 2022
Rosanna Asselta   +2 more
exaly  

A “dose” effect of mutations in the GBA gene on Parkinson's disease phenotype

Parkinsonism and Related Disorders, 2017
Avner Thaler   +2 more
exaly  

Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene

Parkinsonism and Related Disorders, 2018
Avner Thaler   +2 more
exaly  

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