Frédéric Maxime Vaz

Novel GC-MS/MS Strategy for Fructose Quantification and Stable Isotope Tracing: Development, Validation, and SIM vs MRM Comparison

This paper develops and validates a GC-QQQ method for measuring unlabeled and 13C6-fructose in human plasma, showing improved sensitivity and lower LLOQs compared to SIM.

The Lipidome of iPSC-Derived Retinal Organoids and RPE Partially Resembles that of the Human Retina

This study compares the lipidomic profiles of iPSC-derived retinal organoids and RPE with post-mortem human retina to assess their similarity.

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

Chronic exposure to low-concentration urban PM2.5 accelerates maladaptive repair after ischemic injury via mitochondrial dysfunction and lysosomal stress.

This study shows that chronic low-concentration PM2.5 exposure after ischemic injury accelerates CKD through mitochondrial dysfunction and lysosomal stress, with nicotinamide reversing some effects.

Integrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

This study analyzes heart tissue from BTHS patients using integrated omics to identify metabolic and mitochondrial changes associated with the disease.

Plasma triacylglycerol length and saturation level mark healthy aging groups in humans

The paper identifies plasma triacylglycerol (TG) length and saturation levels as markers of healthy aging in humans, showing that higher physical activity is linked to shorter TG chains and more double bonds.

In vivo human uterine temperature, pH, and uterine fluid composition analysis

This study measures uterine temperature, pH, and fluid composition in humans three days after a positive LH test or ovum pick-up, finding lower pH and specific metabolite concentrations compared to in vitro culture conditions.

Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders

The paper uses tracer-based lipidomics to identify two new disease-specific biomarkers for mitochondrial β-oxidation disorders, revealing insights into lipid metabolism and potential diagnostic applications.

Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipin

The paper identifies mitochondrial respiratory chain complex I and quality control dysregulation in TAZ-deficient cells and shows partial remediation via cardiolipin modulation.

Multi-omic approach to identify phenotypic modifiers underlying cerebral demyelination in X-linked adrenoleukodystrophy

This study uses multi-omic profiling of blood samples from ALD patients to identify molecular markers predictive of cerebral demyelination, but finds no statistically significant markers due to high inter-individual variation.