The Consequences of GBA Deficiency in the Autophagy–Lysosome System in Parkinson’s Disease Associated with GBA [PDF]
Cells, 2023 GBA gene variants were the first genetic risk factor for Parkinson’s disease. GBA encodes the lysosomal enzyme glucocerebrosidase (GBA), which is involved in sphingolipid metabolism.
Marta Martinez-vicente, Eddie Pradas
exaly +4 more sources
Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the GBA gene: validation of the data analysis of transcriptome study [PDF]
Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2022 The objective of the study was to validate our previous results obtained during the transcriptome analysis of the primary culture of peripheral blood macrophages in patients with Parkinson's disease associated with mutations in the GBA gene (GBA-PD) in ...
A. I. Bezrukova +6 more
doaj +5 more sources
Molecular Neurodegeneration, 2022 Background Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson’s disease (PD). GBA participates in both the endo-lysosomal pathway and the immune response, two important mechanisms involved in the ...
Giulietta Maria Riboldi +21 more
doaj +2 more sources
Cognition as a mediator for gait and balance impairments in GBA-related Parkinson’s disease [PDF]
npj Parkinson's Disease, 2022 The extent to which the heterogeneity of gait and balance problems in PD may be explained by genetic variation is unknown. Variants in the glucocerebrosidase (GBA) gene are the strongest known genetic risk factor for PD and are associated with greater ...
Rosie Morris +16 more
doaj +2 more sources
Molecular Neurodegeneration, 2018 Background Mutations in glucocerebrosidase (GBA) cause Gaucher disease (GD) and increase the risk of developing Parkinson’s disease (PD) and Dementia with Lewy Bodies (DLB).
Seung Pil Yun +14 more
doaj +2 more sources
Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype? [PDF]
BiomoleculesNeurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations ...
Francesco Cavallieri +10 more
doaj +2 more sources
Effects of Graft Bending Angle on the Tensile Behavior of Bone Tunnel-Graft Constructs for Anterior Cruciate Ligament Reconstruction Using Bone-Patellar Tendon–Bone Graft [PDF]
BioengineeringBone–patellar tendon–bone (BPTB) grafts used in anterior cruciate ligament reconstruction bend at the femoral tunnel aperture, forming a graft bending angle (GBA).
Satoshi Yamakawa +3 more
doaj +2 more sources
Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson’s disease GBA-N370S dopamine neurons [PDF]
Cell Reports, 2023 Summary: Variants at the GBA locus, encoding glucocerebrosidase, are the strongest common genetic risk factor for Parkinson’s disease (PD). To understand GBA-related disease mechanisms, we use a multi-part-enrichment proteomics and post-translational ...
Helle Bogetofte +22 more
doaj +2 more sources
A Multi-Target Detection Method Based on Improved U-Net for UWB MIMO Through-Wall Radar
Remote Sensing, 2023 Ultra-wideband (UWB) multiple-input multiple-output (MIMO) through-wall radar is widely used in through-wall human target detection for its good penetration characteristics and resolution.
Jun Pan +6 more
doaj +1 more source
Geosciences, 2022 The reuse of vintage datasets which were acquired in the 20th century can pose challenges for modern geophysical modeling due to missing detailed preprocessing information, significant uncertainties, or lack of precise tracking, etc.
Ingrid Schattauer +4 more
doaj +1 more source