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MetabolomicsTargeted Metabolomic Analysis in Patients with Wilson Disease Reveals Dysregulated Choline, Methionine and Aromatic Amino Acid Metabolism: Implications for Hepatic and Neurological Phenotypes
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ORGANISM(S): Homo sapiens 
ST001259 | MetabolomicsWorkbench
MetabolomicsLipid-accumulated reactive astrocytes promote disease progression in epilepsy (Human lipidomics)

Reactive astrocytes play an important role in neurological diseases, but their molecular and functional phenotypes in epilepsy are unclear. Here, we show that in patients with temporal lobe epilepsy (TLE) and mouse models of epilepsy, excessive lipid accumulation in astrocytes leads to the format...

2025-07-03 | MTBLS8856 | MetaboLights
MetabolomicsAlterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington’s disease subjects
Huntington's disease (HD) is a severe neurological disease leading to psychiatric symptoms, motor impairment and cognitive decline. The disease is caused by a CAG expansion in the huntingtin (HTT) gene, but how this translates into the clinical phenotype of HD remains elusive. Using liquid chromatog...
2019-06-21 | MTBLS749 | MetaboLights
MetabolomicsElevated brain manganese induces motor disease by upregulating the kynurenine pathway of tryptophan metabolism
Elevated brain levels of the essential metals manganese (Mn), copper, or iron induce motor disease. However, mechanisms of metal-induced motor disease are unclear and treatments are lacking. Elucidating the mechanisms of Mn-induced motor disease is particularly important because occupational and env...
2025-03-31 | MTBLS975 | MetaboLights
GenomicsDog neurological disease
Dog neurological disease-identification of mutation
PRJEB71373 | ENA
MetabolomicsLipid-accumulated reactive astrocytes promote disease progression in epilepsy (Mice lipidomics)

Reactive astrocytes play an important role in neurological diseases, but their molecular and functional phenotypes in epilepsy are unclear. Here, we show that in patients with temporal lobe epilepsy (TLE) and mouse models of epilepsy, excessive lipid accumulation in astrocytes leads to the format...

2025-07-04 | MTBLS8865 | MetaboLights
MetabolomicsNMR Metabolomics in Frailty disease

Increasing evidence suggests that frailty results from a complex age-associated metabolic decline. Here, we investigated the serum metabolomic profile of a well-characterized cohort of elderly subjects encompassing the whole fit-to-frail continuum. Enrichment analyses revealed a complex dysregula...

2024-11-08 | MTBLS11188 | MetaboLights
MetabolomicsDisease phenotype prediction in multiple sclerosis

Progressive multiple sclerosis (PMS) is currently diagnosed retrospectively. Here, we work towards a set of biomarkers that could assist in early diagnosis of PMS. A selection of cerebrospinal fluid metabolites (n=15) was shown to differentiate between PMS and its preceding phenotype in an indepe...

2023-05-31 | MTBLS1464 | MetaboLights
Metabolomics1H-NMR-based metabolomic analysis identifies disrupted glutamate metabolism as distinct serum signature in Parkinson’s disease patients
Using High-Performance Liquid Chromatography, we recently demonstrated a complex dysregulation of the glutamate NMDA receptor-stimulating amino acids in the brain, CSF and serum of Parkinson’s disease (PD) experimental models and patients. Here, we investigate the serum metabolomic profile in the sa...
2024-11-08 | MTBLS10958 | MetaboLights
GenomicsParoxysmal neurological disorders
We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study samp...
EGAS00001000048 | EGA
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