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MetabolomicsMetabolomic Changes in Idiopathic and GBA1 Parkinson’s Disease

Background Variants in the β-glucocerebrosidase (GBA1) gene are the commonest genetic risk factor for Parkinson Disease (PD). Here, we use mass spectrometry based metabolomics to analyse serum and sebum samples from 50 genotyped participants and find differences in lipid and sugar reg...

2025-09-18 | MTBLS10743 | MetaboLights
MetabolomicsSex differences modulate the serum metabolome profiles in Parkinson’s disease patients harbouring pathogenic mutations in GBA1, LRRK2, TMEM175, PARK2, PINK1, and PARK7 genes

Background: Sex and genetic background have an impact on Parkinson’s disease (PD) insurgence, but the comprehension of how these factors affect the circulating profile of PD patients is still an aim of study.

Objectives: In this study we aimed to investigate whether genetic background and ...

2026-06-26 | MTBLS12753 | MetaboLights
ProteomicsiPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic/lysosomal dysfunction and impaired calcium homeostasis
Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disorder Gaucher’s disease (GD), are the strongest genetic risk factor for Parkinson’s disease (PD) known to date. To elucidate the mechanisms underlying neurodegeneration in these patients, we generate...
ORGANISM(S): Homo sapiens (Human) 
2014-06-03 | PXD000866 | Pride
Tmt Neurons Human 
ProteomicsLarge-scale proteomics analysis of five brain regions from Parkinson’s disease patients with a GBA1 mutation
Despite being the second most common neurodegenerative disorder, little is known about Parkinson’s disease (PD) pathogenesis. A number of genetic factors predispose towards PD, among them mutations in GBA1, which encodes the lysosomal enzyme acid-β-glucosidase. We now perform non-targeted, mass spec...
ORGANISM(S): Homo sapiens (Human) 
2024-02-19 | PXD047134 | Pride
Α-synuclein Lysosomal storage disorders Parkinson’s disease Gaucher disease Proteomics. 
TranscriptomicsDifferential gene expression in 2 days old zebrafish after glucocerebrosidase (GBA1) morpholino-mediated knockdown
Gene expression signature was explored to identify gene targets regulate by dysfunctional glucocerebrosidase function. We found 131 upregulated genes and 63 downregulated genes. Some of the most upregulated (PON3, PLOD1) and downregulated (gpx-1b and complemewnt c9) genes were analyzed by q-PCR dem...
ORGANISM(S): Danio rerio 
2014-02-07 | E-GEOD-54754 | biostudies-arrayexpress
ProteomicsGBA1 interactome for understanding pathological mechanisms
Compound heterozygous or homozygous GBA1 mutations lead to Gaucher disease. Furthermore, GBA1 mutations are the most frequent risk factor for Parkinson’s disease. To get a better understanding of the pathological mechanisms, we generated inducible V5-Flag-Tag, V5-Flag-tagged WT, E326K and L444P mu...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD032155 | Pride
Tmt lc-ms Gba1 Inducible t-rex hek Proteome Interactome 
GenomicsEffect of GBA1 deficiency in human iPSC-derived dopaminergic neurons and astrocytes
Effect of GBA1 deficiency in human iPSC-derived dopaminergic neurons and astrocytes
PRJNA1398870 | ENA
TranscriptomicsEffect of GBA1 deficiency in human iPSC-derived dopaminergic neurons and astrocytes
Mutations in the gene glucosidase, beta acid 1 (GBA1) are the strongest genetic risk factor for Parkinson’s disease (PD) and associate with faster disease progression. GBA1 is expressed in all cell types of the central nervous system, with some evidence supporting higher expression in glial cells th...
ORGANISM(S): Homo sapiens 
2026-01-10 | GSE315738 | GEO
TranscriptomicsBeyond the Macrophage: System-wide Cellular and Molecular Dysregulation in GBA1 Deficient Mice Recapitulates Human Non-neuronopathic, Type 1 Gaucher Disease
In non-neuronopathic type 1 Gaucher disease (GD1) mutations in GBA1 gene results in deficiency of glucocerebrosidase and the accumulation of glucocerebroside in lysosomes of mononuclear phagocytes. The metabolic defect leads to a complex phenotype involving the viscera, the bone marrow and the skele...
ORGANISM(S): Mus musculus 
2010-07-29 | E-GEOD-23086 | biostudies-arrayexpress
GenomicsSingle cell analysis of iPSC-derived midbrain organoids (GBA1 mutant and controls)
Single cell analysis of iPSC-derived midbrain organoids (GBA1 mutant and controls)
PRJNA813439 | ENA
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