Associate Professor, Chief of Pediatric Genetics and Metabolism, University of Texas Southwestern Medical Center, Southwestern Medical School
Medical Genetics
Dr. Ralph J. Deberardinis, MD
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Ralph Deberardinis is an expert in the field of Medical Genetics. He attended Perelman School of Medicine at the University of Pennsylvania. Ralph Deberardinis is a published physician as well. He has 84 publications published. The latest was: Rapid amplification of a retrotransposon subfamily is evolving the mouse genome.
Publications
- Cutting Edge: Critical Role of Glycolysis in Human Plasmacytoid Dendritic Cell Antiviral Responses.
- Metabolic Heterogeneity in Human Lung Tumors.
- Designing a broad-spectrum integrative approach for cancer prevention and treatment.
- 6-Phosphogluconate dehydrogenase links oxidative PPP, lipogenesis and tumour growth by inhibiting LKB1-AMPK signalling.
- Oxidative stress inhibits distant metastasis by human melanoma cells.
- NRF2 regulates serine biosynthesis in non-small cell lung cancer.
- Cancer-specific production of N-acetylaspartate via NAT8L overexpression in non-small cell lung cancer and its potential as a circulating biomarker.
- PEPCK Coordinates the Regulation of Central Carbon Metabolism to Promote Cancer Cell Growth.
- Metabolic pathways promoting cancer cell survival and growth.
- Glutamate dehydrogenase 1 signals through antioxidant glutathione peroxidase 1 to regulate redox homeostasis and tumor growth.
- Acetate is a bioenergetic substrate for human glioblastoma and brain metastases.
- The Gut Commensal Bacteroides thetaiotaomicron Exacerbates Enteric Infection through Modification of the Metabolic Landscape.
- MAVS, cGAS, and endogenous retroviruses in T-independent B cell responses.
- Real-time Detection of Hepatic Gluconeogenic and Glycogenolytic States Using Hyperpolarized [2-13C]Dihydroxyacetone.
- MCT4 Defines a Glycolytic Subtype of Pancreatic Cancer with Poor Prognosis and Unique Metabolic Dependencies.
- Glutamine Oxidation Maintains the TCA Cycle and Cell Survival during Impaired Mitochondrial Pyruvate Transport.
- A role for the mitochondrial pyruvate carrier as a repressor of the warburg effect and colon cancer cell growth.
- Metabolic reprogramming during TGFβ1-induced epithelial-to-mesenchymal transition.
- Inhibition of Cancer Cell Proliferation by PPARγ Is Mediated by a Metabolic Switch that Increases Reactive Oxygen Species Levels.
- Lysine Acetylation Activates 6-Phosphogluconate Dehydrogenase to Promote Tumor Growth.
- Oxidation of alpha-ketoglutarate is required for reductive carboxylation in cancer cells with mitochondrial defects.
- A Mitochondrial RNAi Screen Defines Cellular Bioenergetic Determinants and Identifies an Adenylate Kinase as a Key Regulator of ATP Levels.
- A nanoparticle-based strategy for the imaging of a broad range of tumours by nonlinear amplification of microenvironment signals.
- Both GLS silencing and GLS2 overexpression synergize with oxidative stress against proliferation of glioma cells.
- In vivo detection of citrate in brain tumors by (1) H magnetic resonance spectroscopy at 3T.
- Systematic identification of molecular subtype-selective vulnerabilities in non-small-cell lung cancer.
- Hydrophilic interaction liquid chromatography coupled with MS/MS to detect and quantify dicarboxyethyl glutathione, a metabolic biomarker of the fumarate hydratase def...
- The Proto-oncometabolite Fumarate Binds Glutathione to Amplify ROS-Dependent Signaling.
- Cancer. Silencing a metabolic oncogene.
- A comparative study of short- and long-TE (1) H MRS at 3 T for in vivo detection of 2-hydroxyglutarate in brain tumors.
- Mitochondrial reactive oxygen species promote epidermal differentiation and hair follicle development.
- Meis1 regulates the metabolic phenotype and oxidant defense of hematopoietic stem cells.
- Genetically-defined metabolic reprogramming in cancer.
- Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo.
- Reductive carboxylation supports growth in tumour cells with defective mitochondria.
- Serine metabolism: some tumors take the road less traveled.
- Role of glutamine in cancer: therapeutic and imaging implications.
- Pyruvate carboxylase is required for glutamine-independent growth of tumor cells.
- Measurement of glycine in the human brain in vivo by (1) H-MRS at 3 T: application in brain tumors.
- Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.
- Targeting the metabolic flexibility of cancer cells: straighten up and die right.
- The distinct metabolic profile of hematopoietic stem cells reflects their location in a hypoxic niche.
- Wilms tumor in a child with L-2-hydroxyglutaric aciduria.
- Toll-like receptor-induced changes in glycolytic metabolism regulate dendritic cell activation.
- EXPANDED NEWBORN SCREENING: A REVIEW FOR THE PEDIATRIC PATHOLOGIST.
- Glioblastoma cells require glutamate dehydrogenase to survive impairments of glucose metabolism or Akt signaling.
- Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction.
- Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.
- Is cancer a disease of abnormal cellular metabolism? New angles on an old idea.
- The biology of cancer: metabolic reprogramming fuels cell growth and proliferation.
- Beyond aerobic glycolysis: transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis.
- Systemic treatment with the antidiabetic drug metformin selectively impairs p53-deficient tumor cell growth.
- The transcription factor HIF-1alpha plays a critical role in the growth factor-dependent regulation of both aerobic and anaerobic glycolysis.
- Phosphatidylinositol 3-kinase-dependent modulation of carnitine palmitoyltransferase 1A expression regulates lipid metabolism during hematopoietic cell growth.
- DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
- Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
- A mouse model of human L1 retrotransposition.
- Q&A: Targeting metabolism to diagnose and treat cancer.
- NAMPT inhibition sensitizes pancreatic adenocarcinoma cells to tumor-selective, PAR-independent metabolic catastrophe and cell death induced by β-lapachone.
- Analysis of hypoxia-induced metabolic reprogramming.
- Metabolic changes in cancer cells upon suppression of MYC.
- Good neighbours in the tumour stroma reduce oxidative stress.
- Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
- Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.
- Analysis of cancer metabolism by imaging hyperpolarized nuclei: prospects for translation to clinical research.
- Glutamine: pleiotropic roles in tumor growth and stress resistance.
- Exploring a glycolytic inhibitor for the treatment of an FH-deficient type-2 papillary RCC.
- 2010 Keystone Symposium: Metabolism and Cancer Progression.
- Brick by brick: metabolism and tumor cell growth.
- The glucose dependence of Akt-transformed cells can be reversed by pharmacologic activation of fatty acid beta-oxidation.
- Autophagy in metazoans: cell survival in the land of plenty.
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
- Uncoupling hypoxia signaling from oxygen sensing in the liver results in hypoketotic hypoglycemic death.
- Q''s next: the diverse functions of glutamine in metabolism, cell biology and cancer.
- Human enteric defensins. Gene structure and developmental expression.
- High frequency retrotransposition in cultured mammalian cells.
- Many human L1 elements are capable of retrotransposition.
- An actively retrotransposing, novel subfamily of mouse L1 elements.
- Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes.
- Rapid amplification of a retrotransposon subfamily is evolving the mouse genome.
- Exon shuffling by L1 retrotransposition.
- Analysis of the promoter from an expanding mouse retrotransposon subfamily.
- Determination of L1 retrotransposition kinetics in cultured cells.
Schools
Univ Of Pa Sch Of Med
Children39s Hospital Philadelphia
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Children's Hospital of Philadelphia -
Perelman School of Medicine at the University of Pennsylvania
Hospital
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University of Texas Southwestern Medical Center -
Children's Health System of Texas
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