Ralph J. DeBerardinis

This study uses metabolomics to analyze 474 subjects with inborn errors of metabolism, identifying genotype-specific metabolic alterations and providing diagnostic tools and a database of metabolomic features.

This study identifies CHKA/PAF metabolic dependency in clonal hematopoiesis across multiple mutations and shows its suppression reduces clonal expansion.

The paper investigates how IDH1 supports cardiac metabolic adaptation under oncometabolic stress by enabling reductive carboxylation and epigenetic changes.

The paper identifies LepR+ cells as a niche for thrombopoiesis by producing CXCL14, which regulates lipid metabolism and terminal differentiation in megakaryocytes.

This study identifies GAA accumulation in gliomas as a driver of neuronal activity and tumor growth, linking cancer metabolism to neuroscience through GABAA receptor activation.

This study identifies metabolic partnerships between medulloblastoma and macrophages that drive leptomeningeal metastases and suggests targeting the CXCL12-SCARB1-cholesterol axis as a therapeutic strategy.

This study shows that localized loss of G6pc1 in liver zones causes local glycogen accumulation but not systemic disease, highlighting organ-wide compensation for metabolic homeostasis.

The paper develops a biosensor to monitor α-ketoglutarate in human cells and identifies a mitochondrial-to-nuclear pathway regulating chromatin methylation.

The paper identifies higher circulating vitamin B12 in heterozygous MMACHC carriers in the All of Us Research Program, suggesting impaired cellular cobalamin handling rather than improved function.

The paper develops a platform to trace 30 nitrogen isotope-labeled metabolites, revealing cell state-specific pyrimidine synthesis pathway preferences in primitive and differentiated cells.

This study shows that mitoSAM-dependent lipoylation is essential for postnatal heart development by enabling metabolic remodeling from glycolysis to oxidative phosphorylation.

This study identifies UFMylation of PDH as a regulator of mitochondrial metabolism, showing it enhances pyruvate oxidation and TCA cycle activity.

This study shows that L-2HG accumulation due to L2HGDH deficiency impairs neuronal differentiation by epigenetically activating MYC, leading to stem cell self-renewal and reduced neuron formation.

The paper characterizes the metabolomes of microglia, astrocytes, and neurons in aging and Alzheimer's brains, identifying cell-type-specific metabolic pathways and their changes with age and disease.

This study identifies NUDT5 as a regulator of purine metabolism and thiopurine sensitivity by interacting with PPAT, independent of its known enzymatic activity.

The paper shows that LACTB2 in the liver regulates mitochondrial maturation to coordinate carbohydrate metabolism with brain development in mice.

This study shows that disrupting autophagy in CAR-T cells enhances their metabolic activity and improves their ability to reject ovarian tumors in vivo.

This study shows that methionine restriction affects CD8+ T cell function through polyamine synthesis, but does not improve antitumor efficacy in vivo.

This study shows mutant IDH reprograms neural progenitor cell fate by silencing Gsx2, promoting gliomagenesis through lineage switching.

This study identifies PEX39 as a cytosolic peroxin that facilitates PTS2-protein import by interacting with PEX7 and stabilizing its binding to cargo.

This study identifies glycosaminoglycan-mediated lipoprotein uptake as a mechanism by which cancer cells resist ferroptosis and lipid oxidative stress.

This study identifies hyper-glycosylation as a driver of Alzheimer's disease through metabolic analysis and interventions, showing its impact on cognitive decline and mortality.

This study shows that TMPRSS11B promotes an acidified and immunosuppressive tumor microenvironment in lung squamous cell carcinoma, suggesting it as a therapeutic target.

This paper shows that blocking lipid synthesis in Drosophila fat body triggers a metabolic switch to glycogen storage, mediated by SREBP and HATs, supporting development but reducing lifespan and fecundity.

The paper establishes a database of lung cancer mouse models to improve data comparison and translational relevance by aligning mouse mutations with human lung cancer mutations.

The paper shows proteolytic cleavage of fatty acid synthase (FASN) activates a global signal for stress resolution, promoting an anti-inflammatory profile and down-regulating stress-responsiveness.

The paper introduces a web application for exploring metabolomics data from plasma and fibroblasts of patients with inborn errors of metabolism, enabling analysis of metabolic deviations and relationships.

The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.

This study compares neuroendocrine (NE) features in SCLC and NBL, finding similar molecular profiles and shared therapeutic responses but no significant survival association with NE scores.

This study maps the mouse brain metabolome using targeted metabolomics, creating detailed maps of 79 metabolites at high resolution.