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MetabolomicsSex differences modulate blood metabolome profiles in Parkinson’s disease patients harbouring rare genetic variants

Background: Recent findings from our group indicate that sex differences in Parkinson's disease (PD) patients with idiopathic conditions or carrying pathogenic mutations significantly influence the blood occurrence of D and L-amino acids, lipids, antioxidants, and energy-related metabolites when ...

2026-06-26 | MTBLS12746 | MetaboLights
MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (EPIC-Norfolk study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS833 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (INTERVAL study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS834 | MetaboLights
TranscriptomicsTranscriptome sequencing of a large human family identifies the impact of rare non-coding variants
We have combined high-quality genome sequencing and RNA-sequencing data within a 17-individual, three generation family. Using these data, we have contrasted cis-acting expression, allele-specific expression and splicing quantitative trait loci (collectively termed eQTLs) within the family to eQTLs ...
ORGANISM(S): Homo sapiens 
2014-09-01 | E-GEOD-56961 | biostudies-arrayexpress
TranscriptomicsGenome-wide survey of large rare copy number variations in Alzheimer’s disease among Caribbean Hispanics
Recently genome-wide association studies have identified significant association between Alzheimer’s disease and variations in CLU, PICALM, BIN1, CR1, MS4A4/MS4A6E, CD2AP, CD33, EPHA1 and ABCA7. However, the pathogenic variants in these loci have not yet been found. We conducted a genome-wide scan f...
ORGANISM(S): Homo sapiens 
2012-04-30 | E-GEOD-33528 | biostudies-arrayexpress
MetabolomicsG6PD deficiency triggers dopamine loss and the initiation of Parkinson’s Disease pathogenesis
Loss of dopaminergic neurons in Parkinson’s disease (PD) is preceded by loss of synaptic dopamine (DA) and accumulation of proteinaceous aggregates. Linking these deficits is critical to restoring DA signaling in PD. Using murine and human pluripotent stem cell (hPSC) models of PD coupled with human...
2024-10-18 | MTBLS11250 | MetaboLights
TranscriptomicsArray-based resequencing of human mitochondrial disease patient samples to identify rare DNA variants
This is a custom Affymetrix resequencing array for DNA sequencing of the entire coding region and exon-splice sites of 39 human genes (452 exons; 106,337 bases). These nuclear genes encode proteins localized to mitochondria and include known disease genes (i.e. POLG, C10orf2) and new candidate genes...
ORGANISM(S): Homo sapiens 
2011-08-26 | E-MTAB-346 | biostudies-arrayexpress
TranscriptomicsSkin rare disease transcriptomics
Global analysis of RNA from 3 rare skin disease patients extracted from queratinocites and 2 healthy controls (analysis done in triplicate)
ORGANISM(S): Homo sapiens 
2019-08-01 | E-MTAB-3513 | biostudies-arrayexpress
GenomicsRare disease susceptibility alleles in children with Crohn disease
Rare disease susceptibility alleles in children with Crohn disease
PRJNA507828 | ENA
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