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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
ProteomicsProteomic characterisation of lysosomal and mitochondrial perturbations in human iPSC-derived neurons with PARK2 mutation
Mitochondrial dysfunction plays a major role in the pathogenesis of sporadic Parkinson’s disease (PD) and familial PD caused by mutations in the PARK2 gene. The protein, parkin, is vital for mitochondrial function, but the lack of key PD phenotypes in PARK2 knockout (KO) rodent models has hindered i...
ORGANISM(S): Homo sapiens (Human) 
2019-07-26 | PXD008894 | Pride
Human Lc-msms Ipsc Tmt Park2 Mitochondria 
TranscriptomicsAgilent 244K aCGH data for colon cancer samples
Mutation of the gene PARK2 is the most common cause of early-onset Parkinson's Disease (PD)1,2. PARK2 encodes a gene product with E3 ubiquitin ligase activity3. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here,...
ORGANISM(S): Homo sapiens 
2010-06-22 | E-GEOD-18638 | biostudies-arrayexpress
ProteomicsExploring the impact of PARK2 mutations on the total and mitochondrial proteome of human skin fibroblasts
Mutations in PARK2 gene are the most frequent cause of familial forms of Parkinson’s disease (PD). This gene encodes Parkin, an E3 ubiquitin ligase involved in several cellular mechanisms, such as the mitophagic process. Mutations in this gene, which cause the loss of function of Parkin, are respons...
ORGANISM(S): Homo sapiens (Human) 
2020-05-11 | PXD015880 | Pride
Parkinson’s disease Shotgun proteomics Mass spectrometry Human skin fibroblast Park2 mutation Mitochondria Immunoprecipitation 
ProteomicsProteomic analysis of human PARK2 knockout iPSC-derived neurons
Mitochondrial dysfunction plays a major role in the pathogenesis of sporadic Parkinson’s disease (PD) and familial PD caused by mutations in the PARK2 gene. The protein, parkin, is vital for mitochondrial function, but the lack of key PD phenotypes in PARK2 knockout (KO) rodent models has hindered i...
ORGANISM(S): Homo sapiens (Human) 
2019-09-03 | PXD007871 | Pride
Lc-msms Qexactive-hf Parkinson's disease Human ips cells 
UnknownA recurrent mutation in PARK2 is associated with familial lung cancer.
Not available
S-EPMC4320264 | biostudies-literature
UnknownAnalysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease.
Not available
S-EPMC4101102 | biostudies-literature
GenomicsTranscriptomic dataset of neural progenitors differentiated from Parkinson's disease patient induced pluripotent stem cells with heterozygous PARK2 junction mutations transduced with a lentivector containing PARK2 cDNA.
Transcriptomic dataset of neural progenitors differentiated from Parkinson's disease patient induced pluripotent stem cells with heterozygous PARK2 junction mutations transduced with a lentivector containing PARK2 cDNA.
PRJNA844165 | ENA
UnknownGenetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Not available
S-EPMC3056147 | biostudies-literature
UnknownHigh-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.
Not available
S-EPMC4464794 | biostudies-literature
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