2025
Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease
Marquez J, Viviano S, Beckman E, Thies J, Friedland-Little J, Lam C, Deniz E, Shelkowitz E. Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease. Human Genetics And Genomics Advances 2025, 6: 100418. PMID: 39967265, PMCID: PMC11946867, DOI: 10.1016/j.xhgg.2025.100418.Peer-Reviewed Original ResearchOrnithine decarboxylase pathwayCytochrome c oxidaseMitochondrial diseaseCause of mitochondrial diseaseAnalysis of cellular gene expressionSubunits of cytochrome c oxidaseC oxidaseTissue-specific diseasesCellular gene expressionDeficiency of cytochrome c oxidaseLeigh-like diseaseElectron donor NADHDownstream deficienciesMitochondrial membraneProtein complexesCellular functionsOxidative phosphorylationProtein subunitsGene expressionMetabolic pathwaysPolyamine metabolismPathwayProteinPoor growthAdenosine triphosphate
2023
Functionally and Metabolically Divergent Melanoma-Associated Macrophages Originate from Common Bone-Marrow Precursors
Pizzurro G, Bridges K, Jiang X, Vidyarthi A, Miller-Jensen K, Colegio O. Functionally and Metabolically Divergent Melanoma-Associated Macrophages Originate from Common Bone-Marrow Precursors. Cancers 2023, 15: 3330. PMID: 37444440, PMCID: PMC10341323, DOI: 10.3390/cancers15133330.Peer-Reviewed Original ResearchGene Set Enrichment AnalysisBone marrow precursorsTissue-specific nichesTumor-associated macrophagesMelanoma tumor microenvironmentTranscriptomic analysisRNA sequencingTumor microenvironmentEnrichment analysisOxidative phosphorylationProtein secretionTemporal divergenceCanonical markersPolyamine metabolismTAM subsetsLike phenotypeSkin-resident macrophagesMacrophage phenotypeMonocytic precursorsOntogenyTumor progressionDepth characterizationPhenotypeMacrophage subsetsTAM subpopulations
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