Parkinson's Families Project
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001007906 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:We have generated human induced Pluripotent Stem cells (hiPSc) from Parkinson's Disease patients, using retrovirus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays. human iPSc lines were derived from human dermal fibroblasts from 2 Parkinson's Disease patients with heterozygous glucocerebrosidase mutations (GBA N370S) mutations, and 2 idiopathic Parkinson's Disease patients. SNP datasets from the 2 control individuals used in this study have been published previously [PMID 23951090; A mature physiological cellular model of human dopaminergic neurons Hartfield E.M., Yamasaki-Mann M., Fernandes H.J., Vowles., James W.S., Cowley S.A, and Wade-Martins R. In revision]
2013-12-18 | E-GEOD-53424 | biostudies-arrayexpress
Project description:We have generated human induced Pluripotent Stem cells (hiPSc) from Parkinson's Disease patients, using retrovirus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays. Fernandes H.J.R., Hartfield E.M., Badger J., Christian H. C., Emmanoulidou E., Vowles J., Evetts S., Vekrellis K., Talbot K., Hu M.T., James W., Cowley S.A., and Wade-Martins, R. Heterozygous glucocerebrosidase mutations in Parkinson's increase autophagic demand, but decrease capacity, in induced pluripotent stem cell-derived dopaminergic neuronal cultures. submitted for publication human iPSc lines were derived from human dermal fibroblasts from 2 Parkinson's Disease patients with heterozygous glucocerebrosidase mutations (GBA N370S) mutations, and 2 idiopathic Parkinson's Disease patients. SNP datasets from the 2 control individuals used in this study have been published previously [PMID 23951090; A mature physiological cellular model of human dopaminergic neurons Hartfield E.M., Yamasaki-Mann M., Fernandes H.J., Vowles., James W.S., Cowley S.A, and Wade-Martins R. In revision]
2013-12-18 | E-GEOD-53425 | biostudies-arrayexpress
Project description:<p>Rationale: Sex and type of Parkinson's disease (PD) significantly influence onset age, clinical manifestations, treatment response, disease progression and life expectancy. However, the selective influence of idiopathic and familial forms of PD in disrupting blood metabolome profiles across genders remains unclear.</p><p>Methods: We conducted an untargeted 1H NMR-based metabolomics study in a large cohort of clinically and genetically well-characterized patients and controls (n=385), which included: i) 56 women and 65 men diagnosed with idiopathic PD; ii) 60 women and 64 men with a familial form of PD; iii) 80 men and 60 women serving as healthy control groups.</p><p>Results: Multivariate Analysis (MVA) did not reveal differences in serum metabolomes between idiopathic and familial PD patients in both sexes. Similarly, MVA did not show significant variation among blood metabolomes of patients carrying distinct pathogenic variants, including LRRK2, TMEM175, PRKN, PINK1, PARK7 and GBA1. MVA indicates remarkable metabolome differences between idiopathic and familial subtypes compared to healthy controls. Notably, 1H NMR-based metabolomics unveiled a striking gender effect in influencing metabolome dysregulation across idiopathic or familial patients compared to matched controls. Specifically, our results indicate that amino acids, glutathione biosynthesis, energy homeostasis pathways, phospholipids and ketone body metabolism alterations are critically associated with the sex and genotype of PD individuals. However, regardless of the specific disease type, MVA consolidates the evidence that more pronounced blood metabolome dysregulations occurred in males than women with the same form of PD.</p><p>Conclusion: We reveal that men and women exhibit distinct serum metabolome dysregulations across idiopathic and familial forms of PD compared to healthy controls, further indicating the key role of gender and genetic background in controlling varying pathophysiological features of the disease.</p>
2025-09-03 | MTBLS11187 | MetaboLights
Project description:We have generated human induced Pluripotent Stem cells (hiPSc) from Parkinson's Disease patients, using retrovirus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays.
2013-12-18 | GSE53424 | GEO
Project description:We have generated human induced Pluripotent Stem cells (hiPSc) from Parkinson's Disease patients, using retrovirus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays. Fernandes H.J.R., Hartfield E.M., Badger J., Christian H. C., Emmanoulidou E., Vowles J., Evetts S., Vekrellis K., Talbot K., Hu M.T., James W., Cowley S.A., and Wade-Martins, R. Heterozygous glucocerebrosidase mutations in Parkinson's increase autophagic demand, but decrease capacity, in induced pluripotent stem cell-derived dopaminergic neuronal cultures. submitted for publication
2013-12-18 | GSE53425 | GEO
Project description:Identification of early Parkinson's disease events by developing methodology that utilizes recent innovations in human pluripotent stem cells and chemical sensors of HSP90-incorporating chaperome networks.
2018-02-22 | MSV000082091 | MassIVE
Project description:In the present work, we aimed to investigate the expression of microRNAs (miRNAs) in routine colonic biopsies obtained from patients with idiopathic Parkinson's disease (iPD) and to address their value as a diagnostic biomarker for PD and their mechanistic contribution to PD onset and progression.
2021-07-14 | GSE145814 | GEO
Project description:Genome-wide association scan was performed in 1,705 cases of parkinson's genotyped on the Illumina Human 660W SNP array, and 5,175 controls genotyped on the Illumina1.2M-Duo. Analysis was carried out on the overlaps set of SNPs.
| EGAS00000000034 | EGA
Project description:Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms. This SuperSeries is composed of the following subset Series: GSE20168: Transcriptional analysis of prefrontal area 9 in Parkinson's disease GSE20291: Transcriptional analysis of putamen in Parkinson's disease GSE20292: Transcriptional analysis of whole substantia nigra in Parkinson's disease Refer to individual Series
2010-03-23 | E-GEOD-20295 | biostudies-arrayexpress