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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
MetabolomicsGenetic Ablation of Sfxn5 Induces Mitochondrial Dysfunction and Precipitates Lethal Metabolic Crisis in Mice
Mitochondrial disorders frequently manifest with life-threatening hepatic metabolic crises. Using a global Sfxn5-knockout mouse model, we investigated the systemic consequences of disrupting this mitochondrial inner-membrane transporter through integrated biochemical, metabolomic, histological, and ...
2026-05-30 | MTBLS14628 | 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
MetabolomicsTracer-based Metabolomics Technology to Investigate the Role and Mechanism of Fangji Huangqi Tang in Regulating Lipid Metabolism Disorders in MPC-5 Cells
Lipid metabolism disorders play a critical role in the progression of nephrotic syndrome (NS). Although the traditional Chinese medicine formula Fangji Huangqi Tang (FHT) has been shown to restore lipid homeostasis in vivo, its specific molecular targets and effects on dynamic lipid metabolism in po...
2026-09-20 | MTBLS14277 | MetaboLights
TranscriptomicsTranscriptional dysregulation of synaptic genes in a human iPSC model of major mental disorders
Schizophrenia and other psychiatric disorders are postulated to be developmental disorders resulting from synapse dysfunction. How susceptibility genes for major mental disorders could lead to synaptic deficits in humans is not well-understood. Here we generated induced pluripotent stem cells (iPSCs...
ORGANISM(S): Homo sapiens 
2014-08-01 | E-GEOD-57821 | biostudies-arrayexpress
TranscriptomicsA Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders
Human peroxisome biogenesis disorders are lethal genetic disease in which abnormal peroxisome assembly compromises overall peroxisome and cellular function. Peroxisomes are ubiquitous membrane-bound organelles involved in several important biochemical processes, notably lipid metabolism and the use ...
ORGANISM(S): Drosophila melanogaster 
2011-07-02 | E-GEOD-30362 | biostudies-arrayexpress
TranscriptomicsInvestigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders (ASD) by microRNA expression profiling of lymphoblastoid cell lines
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by abnormalities in reciprocal social interactions and language development and/or usage, and by restricted interests and repetitive behaviors. Differential gene expression of neurologically relevant genes in lymphoblasto...
ORGANISM(S): Homo sapiens 
2010-04-09 | E-GEOD-21086 | biostudies-arrayexpress
GenomicsMolecular Genetic Studies of Developmental Disorders
Molecular Genetic Studies of Developmental Disorders
PRJNA84197 | ENA
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