Similar Datasets
Project description:A splice isoform signature of Parkinson’s disease in peripheral blood
| PRJNA149951 | ENA
Project description:Establishing reliable biomarkers for assessing and validating clinical diagnosis at early prodromal stages of Parkinson’s disease is crucial for developing therapies to slow or halt disease progression. Here, we present the largest study to date using whole blood gene expression profiling from over 500 individuals to identify an 87-gene blood-based signature. Our gene signature effectively differentiates between idiopathic PD patients and controls in both a validation cohort and an independent test cohort, and further highlights mitochondrial metabolism and ubiquitination/proteasomal degradation as potential pathways disrupted in Parkinson’s disease.
2017-05-20 | GSE99039 | GEO
Project description: Not available
| S-EPMC6943056 | biostudies-literature
Project description:This SuperSeries is composed of the following subset Series: GSE27389: Substitutions in the KRas oncogene determine protein behavior: Implications for signaling and clinical outcome. GSE31428: Final efficacy and biomarker analysis of the sorafenib arm of the BATTLE (Biomarker-Integrated Approaches of Targeted Therapy for Lung Cancer Elimination) trial GSE31852: An EGFR-mutation signature reveals features of the EGFR-dependent phenotype and identifies MACC1 as an EGFR-associated regulator of MET. GSE33072: An epithelial-mesenchymal transition (EMT) gene signature predicts resistance to erlotinib and PI3K pathway inhibitors and identifies Axl as a novel EMT marker in non-small cell lung cancer. Refer to individual Series
2012-01-01 | E-GEOD-31437 | biostudies-arrayexpress
Project description:Importance. Biological markers of Parkinson’s disease are essential for achieving disease modification. Objective. To determine the association of SNCA blood transcript levels with prevalence of Parkinson’s disease. Background. The SNCA locus is preferentially transcribed in neurons and blood cells. Non-coding genetic variants and neuronal aggregates of α-synuclein protein associate this locus with sporadic Parkinson’s disease and suggest a potential role for abnormal SNCA transcription in the disease mechanism. Here we investigated variation in intracellular SNCA gene expression and SNCA transcript isoform abundance in circulating blood cells of cases with PD and controls in a network of biobanks that represent regional, national, and international populations. Design, Setting, Participants. Three cross-sectional, case-control studies nested in observational biomarker studies. 222 cases with early-stage clinical PD and 183 controls were enrolled from 2005 to 2010 in the Harvard Biomarker Study (HBS) at two Harvard-affiliated tertiary care centers. 76 cases with dopamine transporter imaging (DAT)-confirmed PD and 42 controls were enrolled between August 2007 and December 2008 in the Blood α-Synuclein, Gene Expression and Smell Testing as Diagnostic and Prognostic Biomarkers in Parkinson’s Disease Study (PROBE) study from 22 US tertiary care centers. 202 DAT-confirmed cases with de novo PD and 138 controls were enrolled in the Parkinson’s Progression Markers Initiative (PPMI) between July 2010 and November 2012 from 22 US and international tertiary care centers. Main Outcome Measures. Association of intracellular SNCA transcript abundance with PD estimated on analog and digital expression platforms. Results. Reduced levels of SNCA transcripts were associated with early-stage clinical PD, neuroimaging-confirmed PD, and untreated, neuroimaging-confirmed PD in accessible, peripheral blood cells from a total of 863 individuals. SNCA expression was reduced by 17%, 22%, and 16% in cases compared to controls in the HBS, PROBE, and PPMI study with P values of 0.004, 0.025, and 0.018, respectively, after adjusting for clinical, hematological, and processing covariates. Specific SNCA transcripts with long 3’ untranslated regions (UTR) and those skipping exon 5 are implicated in the accumulation and mitochondrial targeting of α-synuclein protein in Parkinson’s pathology. These transcript isoforms were linked to PD through digital expression analysis. Individuals in the lowest quartile of SNCA expression values had covariate-adjusted odds ratios for PD of 2.14 (95% C. I. 1.1-4.1), 4.5 (95% C. I. 1.3-15), and 2.1 (1.1-4.0) compared to individuals in the highest quartile of expression values in the HBS, PROBE, and PPMI study, respectively. Conclusions and Relevance. Reduced levels of SNCA expression, particularly of disease-relevant transcripts with extended 3’ UTR or exon 5 skipping, are associated with early-stage PD. These findings support a potential role for SNCA as a transcriptional marker of PD and may have implications for patient stratification and risk assessment.
2015-06-01 | GSE57475 | GEO
Project description:We developed TF-based MNPs (TF-MNPs) to isolate blood-derived exosome in this study and isolated the blood-derived exosomes of patients with neuroinflammatory diseases, such as dementia, Parkinson’s disease and multiple sclerosis via this strategy and then evaluated the proteomic profiling of these exosomes to screen for a potential candidate biomarker. Blood was collected from 10 patients in each of the three disease groups. Over 800 serum exosome proteins were identified by highly sensitive nanoflow liquid chromatography-tandem mass spectrometry (LC−MS/MS).
2023-02-20 | PXD038555 | Pride
Project description:SEAweb: The small RNA Expression Atlas on web
| PRJNA556869 | ENA
Project description:Analysis of cerebrospinal fluid (CSF) is important for diagnosis of neurological diseases. Specific proteins, which are released from the CNS can be quantitatively monitored. Especially, in the field of neurodegenerative diseases abnormal protein abundance is an important biomarker. However, the quality of the CSF sample is a key factor for the analytic outcome. In this study we evaluated the effect of blood contamination in CSF with respect to protein biomarker identification. We compared three distinct measures: semiquantitative Combur10-Test® strips for urinary hemoglobin, a specific hemoglobin ELISA and bottom-up mass spectrometry (MS) based proteomics for the determination of the general blood contamination level. In parallel, we studied the impact of blood contamination on the detectability of alpha-synuclein (aSyn), a highly abundant protein in blood/erythrocytes and potential biomarker for Parkinson’s disease. Based on our results we identified other markers for blood contamination beyond hemoglobin and defined a grading system for blood levels in CSF samples including a lower limit of tolerable blood contamination for mass spectrometry-based biomarker studies and suggest the Combur10-Test® as a cost-effective test for simple and fast determination of blood contaminations in CSF.
2020-02-17 | PXD014515 | Pride
Project description:Using single-nucleus RNA sequencing, we profiled postmortem midbrain tissue from Idiopathic Parkinson’s Disease patients and matched controls.
2020-09-17 | GSE157783 | GEO
Project description:Blood transcriptomics of drug-naïve sporadic Parkinson’s disease patients
| PRJNA293554 | ENA