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MetabolomicsSex differences modulate the serum metabolome profiles in Parkinson’s disease patients harbouring pathogenic mutations in GBA1, LRRK2, TMEM175, PARK2, PINK1, and PARK7 genes

Background: Sex and genetic background have an impact on Parkinson’s disease (PD) insurgence, but the comprehension of how these factors affect the circulating profile of PD patients is still an aim of study.

Objectives: In this study we aimed to investigate whether genetic background and ...

2026-06-26 | MTBLS12753 | MetaboLights
MetabolomicsIDH1 Mutations Induce Organelle Defects Via Dysregulated Phospholipids (CSHNeg)

Infiltrating gliomas are devastating and incurable tumors. Amongst all gliomas, those harboring an isocitrate dehydrogenase 1 mutation (IDHmut), acquire a different tumor biology and clinical manifestation than those that are IDHWT. Understanding the unique metabolic profile reprogrammed by IDH1 ...

2020-11-24 | MTBLS1973 | MetaboLights
MetabolomicsIDH1 Mutations Induce Organelle Defects Via Dysregulated Phospholipids (CSHpos)

Infiltrating gliomas are devastating and incurable tumors. Amongst all gliomas, those harboring an isocitrate dehydrogenase 1 mutation (IDHmut), acquire a different tumor biology and clinical manifestation than those that are IDHWT. Understanding the unique metabolic profile reprogrammed by IDH1 ...

2020-11-24 | MTBLS1974 | MetaboLights
MetabolomicsIDH1 Mutations Induce Organelle Defects Via Dysregulated Phospholipids (FA_HILICZ)

Infiltrating gliomas are devastating and incurable tumors. Amongst all gliomas, those harboring an isocitrate dehydrogenase 1 mutation (IDHmut), acquire a different tumor biology and clinical manifestation than those that are IDHWT. Understanding the unique metabolic profile reprogrammed by IDH1 ...

2020-11-24 | MTBLS1967 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13111 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13127 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13116 | MetaboLights
MetabolomicsDissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by loss-of-function mutations in PKD1 or PKD2. Increased glycolysis is a prominent feature of the disease, but how it impacts on other metabolic pathways is unknown. Here, we present an analysis of mouse Pkd1 mutant ce...
2019-06-07 | MTBLS677 | MetaboLights
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
MetabolomicsPathogenic Auxilin mutations affect lipids that are critical to Synaptojanin function
Not available
ORGANISM(S): Drosophila melanogaster 
ST002335 | MetabolomicsWorkbench
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