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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
MetabolomicsMetabolic Profiling of CSF from People Suffering from Sporadic and LRRK2 Parkinson's Disease: A Pilot Study
CSF from unique groups of Parkinson's disease (PD) patients was biochemically profiled to identify previously unreported metabolic pathways linked to PD pathogenesis, and novel biochemical biomarkers of the disease were characterized. Utilizing both 1H NMR and DI-LC-MS/MS we quantitatively profiled ...
2022-09-02 | MTBLS863 | MetaboLights
TranscriptomicsGene expression analysis of H9 hESC derived neuron stem cells (NSC) harboring pathogenic LRRK2 (G2019S) mutation
Genetic mutations on leucine-rich repeat kinase 2 (LRRK2) have been associated with an increased risk of Parkinson's disease. The Gly2019Ser (G2019S) mutation on LRRK2 gene is a relatively common cause of familial Parkinson's disease in Caucasian population. In this study, we generated H9 hESC harbo...
ORGANISM(S): Homo sapiens 
2012-10-17 | E-GEOD-36321 | biostudies-arrayexpress
TranscriptomicsExamination of impact of pathogenic mutations in LRRK2 upon gene expression in patient fibroblasts and HEK cells
Analysis of global gene expression changes due to the induction of wt or mutant Lrrk2 expression For GSM628620-GSM628655: RNA from HEK cells, stably transfected with an inducable lrrk2 expression vector For GSM628657-GSM628676: RNA from patient derived fibroblast cells
ORGANISM(S): Homo sapiens 
2010-12-03 | E-GEOD-25580 | biostudies-arrayexpress
ProteomicsDevelopment of a multiplex targeted mass spectrometry assay to quantify levels of LRRK2 phosphorylated Rab substrates and Ser910 and Ser935 biomarker sites
Mutations that increase the protein kinase activity of LRRK2 are one of the most common causes of familial Parkinson's disease. LRRK2 phosphorylates a subset of Rab GTPases within their Switch-II motif, impacting interaction with effectors. We describe and validate a new, multiplex targeted mass spe...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2021-03-17 | PXD022662 | Pride
Rab-gtpases Parkinson's disease Lrrk2 Prm Lc-ms/ms 
ProteomicsPPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins
Mutations that activate LRRK2 protein kinase cause Parkinson’s disease. LRRK2 phosphorylates a subset of Rab GTPases within their Switch-II motif controlling interaction with effectors. An siRNA screen of all protein phosphatases revealed that a poorly studied protein phosphatase, PPM1H, counteracts...
ORGANISM(S): Homo sapiens (Human) 
2019-11-06 | PXD014794 | Pride
Lrrk2 Phosphatase Parkinson's disease Rab10 
ProteomicsProteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice
Mutations in leucine-rich repeat kinase 2 (LRRK2) segregate with familial Parkinson’s disease (PD) and genetic variation in LRRK2 contributes to risk of sporadic disease. Although knockout of LRRK2 or knock-in of pathogenic mutations into the mouse germline does not result in a PD phenotype, several...
ORGANISM(S): Mus musculus (Mouse) 
2022-03-01 | PXD008531 | Pride
Membrane trafficking Proteomics Lrrk2 Protein translation Lysosomal function Genetic mouse models Parkinson’s disease 
ProteomicsParkinson’s VPS35[D620N] mutation induces LRRK2 mediated lysosomal association of RILPL1 and TMEM55B
The Parkinson’s VPS35[D620N] mutation causes lysosome dysfunction enhancing LRRK2 kinase activity. We find the VPS35[D620N] mutation alters expression of ~350 lysosomal proteins and stimulates LRRK2 recruitment and phosphorylation of Rab proteins at the lysosome. This recruits the phosphoRab effecto...
ORGANISM(S): Homo sapiens (Human) 
2023-11-08 | PXD045671 | Pride
Parkinson's disease Lrrk2 Lysosome Proteomics 
ProteomicsPhospho-proteome analysis of PBMCs in LRRK2 mutation carriers: expansion & validation of findings of the Barcelona LRRK2 Biorepository
Supported by the Michael J Fox Foundation we established a biorepository of blood cells from G2019S LRRK2-PD patients recruited at the Hospital Clínic de Barcelona (Barcelona). Using this cohort, we performed a phospho-proteomic pilot study by mass spectrometry and identified a differential combinat...
ORGANISM(S): Homo sapiens (Human) 
2025-06-09 | PXD050944 | Pride
G2019s Phosphoproteome Lrrk2 mutations Parkinson's disease R1441g Pbmcs 
ProteomicsPhospho-proteome analysis of PBMCs in LRRK2 mutation carriers: expansion & validation of findings of the Barcelona LRRK2 Biorepository
Supported by the Michael J Fox Foundation we established a biorepository of blood cells from G2019S LRRK2-PD patients recruited at the Hospital Clínic de Barcelona (Barcelona). Using this cohort, we performed a phospho-proteomic pilot study by mass spectrometry and identified a differential combinat...
ORGANISM(S): Homo sapiens (Human) 
2025-06-09 | PXD050865 | Pride
G2019s Phosphoproteome Lrrk2 mutations Parkinson's disease R1441g Pbmcs 
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