npj Parkinson's DiseaseVariants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data.
Elisa Menozzi +17 more
doaj +7 more sources
L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils. [PDF]
PLoS ONE, 2020 Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk factor for Parkinson disease.
Anna Migdalska-Richards +6 more
doaj +14 more sources
Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers [PDF]
Анналы клинической и экспериментальной неврологииIntroduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in the
Anton K. Emelyanov +13 more
doaj +3 more sources
NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN‐DBS status
Annals of Clinical and Translational NeurologyObjective Mutations in the glucocerebrosidase (GBA1) gene and subthalamic nucleus deep brain stimulation (STN‐DBS) are independently associated with cognitive dysfunction in persons with Parkinson's disease (PwP).
Ahmad Almelegy +10 more
doaj +2 more sources
Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background [PDF]
npj Parkinson's DiseaseHeterozygous GBA1 variants increase Parkinson’s disease (PD) risk with variable penetrance. We investigated the interaction between genome-wide polygenic risk scores (PRS) and severity of pathogenic GBA1 variants (GBA1 PVs) to assess their combined ...
Emadeldin Hassanin +8 more
doaj +4 more sources
Gene Therapy for Parkinson’s Disease Associated with Mutations
Journal of Parkinson’s Disease, 2021 Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkinson’s disease.
Asa Abeliovich +2 more
doaj +4 more sources
and The Immune System: A Potential Role in Parkinson’s Disease?
Journal of Parkinson’s Disease, 2022 It is clear that the immune system and inflammation have a role in Parkinson’s disease (PD), including sporadic PD and some genetic forms such as LRRK2 -associated PD.
Zaid A.M. Al-Azzawi +2 more
doaj +3 more sources
Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease [PDF]
Neurobiology of DiseaseBackground: GBA1 mutation is the most significant genetic risk factor for Parkinson's disease (PD). It encodes glucocerebrosidase (GCase), whose dysfunction – seen in Gaucher disease - leads to the accumulation of glucosylceramide and its derivate ...
Massimo Marano +50 more
doaj +2 more sources
Associations of cholinergic system integrity with cognitive decline in GBA1 and LRRK2 mutation carriers [PDF]
npj Parkinson's DiseaseIn Parkinson’s disease (PD), GBA1- and LRRK2-mutations are associated with different clinical phenotypes which might be related to differential involvement of the cholinergic system.
Julia Schumacher +3 more
doaj +3 more sources
Variants in the GBA1 gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD) worldwide. GBA1-associated PD is characterized by impaired lysosomal function, reduced GCase activity and increased α-synuclein accumulation, a pathological hallmark of PD.
OLEKSY, Christiane
openaire +2 more sources