Juan M Pascual

Summary

Affiliation: University of Texas Southwestern Medical Center
Country: USA

Publications

  1. ncbi request reprint Glucose transporter protein syndromes
    Darryl C De Vivo
    Department of Neurology, Colleen Giblin Research Laboratories for Pediatric Neurology, Columbia University, New York 10032, USA
    Int Rev Neurobiol 51:259-88. 2002
  2. pmc Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants
    Juan M Pascual
    Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 283:16732-42. 2008
  3. ncbi request reprint Brain glucose supply and the syndrome of infantile neuroglycopenia
    Juan M Pascual
    Colleen Giblin Research Laboratories, Neurological Institute of New York, USA
    Arch Neurol 64:507-13. 2007
  4. doi request reprint Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M
    Dong Wang
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Pediatr Res 64:538-43. 2008
  5. pmc Metabolism of [U-13 C]glucose in human brain tumors in vivo
    Elizabeth A Maher
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA
    NMR Biomed 25:1234-44. 2012
  6. pmc Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors
    Isaac Marin-Valencia
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA
    NMR Biomed 25:1177-86. 2012
  7. pmc Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain
    Isaac Marin-Valencia
    Rare Brain Disorders Clinic and Laboratory, Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8813, USA
    J Cereb Blood Flow Metab 33:175-82. 2013
  8. ncbi request reprint Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects
    Dong Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, 710 West 168th Street, New York, NY 10032, USA
    Ann Neurol 57:111-8. 2005
  9. ncbi request reprint A mouse model for Glut-1 haploinsufficiency
    Dong Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 15:1169-79. 2006
  10. doi request reprint Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Glucose transporter protein syndromes
    Darryl C De Vivo
    Department of Neurology, Colleen Giblin Research Laboratories for Pediatric Neurology, Columbia University, New York 10032, USA
    Int Rev Neurobiol 51:259-88. 2002
  2. pmc Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants
    Juan M Pascual
    Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 283:16732-42. 2008
    ....
  3. ncbi request reprint Brain glucose supply and the syndrome of infantile neuroglycopenia
    Juan M Pascual
    Colleen Giblin Research Laboratories, Neurological Institute of New York, USA
    Arch Neurol 64:507-13. 2007
    ..To describe neuroglycopenia as a specific syndrome caused by insufficient glucose availability during brain development...
  4. doi request reprint Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M
    Dong Wang
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Pediatr Res 64:538-43. 2008
    ..These findings explain the seemingly paradoxical findings of Glut1 DS with hypoglycorrhachia and "normal" erythrocyte glucose uptake...
  5. pmc Metabolism of [U-13 C]glucose in human brain tumors in vivo
    Elizabeth A Maher
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA
    NMR Biomed 25:1234-44. 2012
    ..This study illustrates a convenient approach that capitalizes on the high information content of (13) C NMR spectroscopy and enables the analysis of intermediary metabolism in diverse cancers growing in their native microenvironment...
  6. pmc Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors
    Isaac Marin-Valencia
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA
    NMR Biomed 25:1177-86. 2012
    ..Taken together, these data demonstrate that (13) C-labeled glucose can be used in orthotopic mouse models to study tumor metabolism in vivo and to ascertain new metabolic targets for cancer diagnosis and therapy...
  7. pmc Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain
    Isaac Marin-Valencia
    Rare Brain Disorders Clinic and Laboratory, Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8813, USA
    J Cereb Blood Flow Metab 33:175-82. 2013
    ..These results enlighten the mechanism of heptanoate metabolism in the normal and glucose-deficient brain and encourage further studies to elucidate its potential antiepileptic effects in disorders of energy metabolism...
  8. ncbi request reprint Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects
    Dong Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, 710 West 168th Street, New York, NY 10032, USA
    Ann Neurol 57:111-8. 2005
    ..Fourteen were novel mutations. There were no obvious correlations between phenotype, genotype, or biochemical measures. The ketogenic diet produced good seizure control...
  9. ncbi request reprint A mouse model for Glut-1 haploinsufficiency
    Dong Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 15:1169-79. 2006
    ..This GLUT-1+/- mouse model creates an opportunity to investigate Glut-1 function, to examine the pathophysiology of Glut-1 DS in vivo and to evaluate new treatment strategies...
  10. doi request reprint Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009
    ....
  11. doi request reprint Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain
    Isaac Marin-Valencia
    Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Neurochem Int 61:1036-43. 2012
    ....
  12. ncbi request reprint Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency
    Dong Wang
    Department of Neurology, Columbia University, New York, New York 10032, USA
    J Biol Chem 278:49015-21. 2003
    ..73), and a minimal correlation between uptake, Pf, and molecular weight. These findings are consistent with a central role for hydropathy rather than size at position 310 of this mutation...
  13. pmc Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo
    Isaac Marin-Valencia
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Cell Metab 15:827-37. 2012
    ..Many of these same activities were conserved in cells cultured ex vivo from the tumors. Thus GBM cells utilize mitochondrial glucose oxidation during aggressive tumor growth in vivo...
  14. ncbi request reprint Nerve conduction abnormalities in patients with MELAS and the A3243G mutation
    Petra Kaufmann
    Department of Neurology, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Arch Neurol 63:746-8. 2006
    ..Neuropathy has been associated with several mitochondrial diseases, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes)...
  15. ncbi request reprint GLUT1 deficiency and other glucose transporter diseases
    Juan M Pascual
    Colleen Giblin Laboratories, Neurological Institute of New York, College of Physicians and Surgeons, Columbia University, New York City, NY, USA
    Eur J Endocrinol 150:627-33. 2004
    ..The study of these diseases illustrates fundamental aspects of energetic metabolism, while providing the basis for their diagnosis by simple metabolic screening and for their treatment by dietary modification...
  16. pmc Modeling of brain metabolism and pyruvate compartmentation using (13)C NMR in vivo: caution required
    F Mark Jeffrey
    1 Advanced Imaging Research Center, The University of Texas Southwestern Medical Center, Dallas, Texas, USA 2 Department of Radiology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA
    J Cereb Blood Flow Metab 33:1160-7. 2013
    ..At least 50% of the curves in each experiment were considered poorly fit. It was concluded that the model does not include all metabolic features required to analyze the data. ..
  17. ncbi request reprint Imaging the metabolic footprint of Glut1 deficiency on the brain
    Juan M Pascual
    Colleen Giblin Laboratories, Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    Ann Neurol 52:458-64. 2002
    ..The potential benefit of prompt diagnosis, aided by 18F-fluorodeoxyglucose positron emission tomography, and early initiation of available therapies is underscored by our results...
  18. pmc Measurement of glycine in the human brain in vivo by 1H-MRS at 3 T: application in brain tumors
    Changho Choi
    Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Magn Reson Med 66:609-18. 2011
    ..Metabolite concentrations were obtained using the water signal from the tumor mass. The study revealed that a subset of human gliomas contains glycine levels elevated 1.5-8 fold relative to normal...
  19. doi request reprint Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation
    Juan M Pascual
    Rare Brain Disorders Clinic and Laboratory, Departments of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    JAMA Neurol 70:756-63. 2013
    ..However, current therapies primarily focused on reducing glycogen deposition by dietary or enzyme replacement have not been consistently beneficial, providing the motivation for a better understanding of disease mechanisms...
  20. pmc High-resolution detection of ¹³C multiplets from the conscious mouse brain by ex vivo NMR spectroscopy
    Isaac Marin-Valencia
    Rare Brain Disorders Clinic and Research Laboratory, Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    J Neurosci Methods 203:50-5. 2012
    ..We anticipate that this method can be broadly applicable to compute brain fluxes in normal and transgenic mouse models of neurological disorders...
  21. ncbi request reprint [Glucose transport hereditary diseases]
    Juan M Pascual
    Department of Neurology, Neurological Institute of New York, Children s Hospital of New York, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    Med Clin (Barc) 127:709-14. 2006
    ..The fundamental role served by glucose transport allows these pleomorphic conditions to cross the boundaries of traditional clinical disciplines...
  22. pmc 2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas
    Changho Choi
    Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Nat Med 18:624-9. 2012
    ..Detection of 2HG correlated with mutations in IDH1 or IDH2 and with increased levels of D-2HG by mass spectrometry of the resected tumors. Noninvasive detection of 2HG may prove to be a valuable diagnostic and prognostic biomarker...
  23. ncbi request reprint Fever, molecular excitability and epilepsy
    Juan M Pascual
    Neurological Institute of New York, Columbia University, 710 West 168th Street, New York, NY 10032, USA
    Neurosci Lett 368:1. 2004
  24. doi request reprint Epilepsy in inherited metabolic disorders
    Juan M Pascual
    Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Neurologist 14:S2-S14. 2008
    ....
  25. doi request reprint Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis
    Isaac Marin-Valencia
    Department of Neurology, UT Southwestern Medical Center, Dallas, TX 75390 8813, USA
    Mol Genet Metab 101:9-17. 2010
    ....
  26. ncbi request reprint Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer
    Pavel Iserovich
    Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
    J Biol Chem 277:30991-7. 2002
    ..These experimental observations and an analysis of our three-dimensional model strongly suggest the presence of two channels per Glut1 monomer, one of which can be blocked by the mutation T310I...