John D Phillips

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. pmc Uroporphyria in the Cyp1a2-/- mouse
    John D Phillips
    University of Utah School of Medicine, Department of Internal Medicine, Division of Hematology, Salt Lake City, UT 84132, USA
    Blood Cells Mol Dis 47:249-54. 2011
  2. pmc Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Blood 109:2618-21. 2007
  3. pmc Substrate shuttling between active sites of uroporphyrinogen decarboxylase is not required to generate coproporphyrinogen
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, 5C330 SOM, 30 North 1900 East, Salt Lake City, UT 84132, USA
    J Mol Biol 389:306-14. 2009
  4. pmc Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    EMBO J 22:6225-33. 2003
  5. ncbi request reprint Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Transl Res 149:85-91. 2007
  6. pmc A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Proc Natl Acad Sci U S A 104:5079-84. 2007
  7. ncbi request reprint Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    J Biol Chem 279:38960-8. 2004
  8. pmc The hepcidin-binding site on ferroportin is evolutionarily conserved
    Ivana De Domenico
    Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Cell Metab 8:146-56. 2008
  9. pmc Down-regulation of hepcidin in porphyria cutanea tarda
    Richard S Ajioka
    Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Blood 112:4723-8. 2008
  10. ncbi request reprint Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complex
    Frank G Whitby
    Department of Biochemistry, University of Utah School of Medicine, 50 N Medical Drive, Salt Lake City 84132, USA
    J Mol Biol 319:1199-210. 2002

Collaborators

Detail Information

Publications24

  1. pmc Uroporphyria in the Cyp1a2-/- mouse
    John D Phillips
    University of Utah School of Medicine, Department of Internal Medicine, Division of Hematology, Salt Lake City, UT 84132, USA
    Blood Cells Mol Dis 47:249-54. 2011
    ....
  2. pmc Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Blood 109:2618-21. 2007
    ..The Hb F level of 59.5% suggests a role for GATA-1 in globin switching. A bone marrow allograft corrected both the porphyria and the thalassemia...
  3. pmc Substrate shuttling between active sites of uroporphyrinogen decarboxylase is not required to generate coproporphyrinogen
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, 5C330 SOM, 30 North 1900 East, Salt Lake City, UT 84132, USA
    J Mol Biol 389:306-14. 2009
    ....
  4. pmc Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    EMBO J 22:6225-33. 2003
    ....
  5. ncbi request reprint Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Transl Res 149:85-91. 2007
    ..A second pregnancy occurred in this family, and in utero genotyping revealed a fetus heterozygous for the maternal nonsense mutation (URO-D genotype WT/Gln71Stop). A healthy infant was born with no clinical evidence of porphyria...
  6. pmc A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Proc Natl Acad Sci U S A 104:5079-84. 2007
    ..These studies define the mechanism underlying clinical expression of the PCT phenotype, namely oxidation of uroporphyrinogen to uroporphomethene, a competitive inhibitor of URO-D. The oxidation reaction is iron-dependent...
  7. ncbi request reprint Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae
    John D Phillips
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    J Biol Chem 279:38960-8. 2004
    ..The structure therefore suggests residues that likely play critical roles in catalysis and explains the deleterious effect of many of the mutations associated with the disease hereditary coproporphyria...
  8. pmc The hepcidin-binding site on ferroportin is evolutionarily conserved
    Ivana De Domenico
    Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Cell Metab 8:146-56. 2008
    ..The affinity of hepcidin for the HBD permits a rapid, sensitive assay of hepcidin from all species and yields insights into the evolution of hepcidin...
  9. pmc Down-regulation of hepcidin in porphyria cutanea tarda
    Richard S Ajioka
    Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Blood 112:4723-8. 2008
    ..These data indicate that the hepatic siderosis associated with PCT likely results from dysregulated HAMP...
  10. ncbi request reprint Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complex
    Frank G Whitby
    Department of Biochemistry, University of Utah School of Medicine, 50 N Medical Drive, Salt Lake City 84132, USA
    J Mol Biol 319:1199-210. 2002
    ..This finding suggests that the dominant role in catalysis may be performed by hydride transfer from the cofactor, a process that may be promoted by proximity of the invariant residues Glu96, Glu123, and Glu126, to the nicotinamide ring...
  11. ncbi request reprint Gain-of-function mutations identify amino acids within transmembrane domains of the yeast vacuolar transporter Zrc1 that determine metal specificity
    Huilan Lin
    Department of Pathology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Biochem J 422:273-83. 2009
    ..These results suggest that substrate selection involves co-operativity between transmembrane domains...
  12. pmc Structure and mechanistic implications of a uroporphyrinogen III synthase-product complex
    Heidi L Schubert
    Departments of Biochemistry and Internal Medicine, School of Medicine, University of Utah, Salt Lake City, Utah 84112, USA
    Biochemistry 47:8648-55. 2008
    ..A conserved tyrosine residue is potentially positioned to facilitate loss of a hydroxyl from the substrate to initiate the catalytic reaction...
  13. pmc Sampangine inhibits heme biosynthesis in both yeast and human
    Zhiwei Huang
    Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    Eukaryot Cell 10:1536-44. 2011
    ..This study also reveals a surprising essential role for the interaction between the mitochondrial ATP synthase and the electron transport chain...
  14. ncbi request reprint Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome
    John D Phillips
    Department of Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Am J Med Genet A 134:77-9. 2005
    ..We report on a new mutation, 43G > A, in the loop of the stem-loop structure of the L-ferritin IRE in the proband of a pedigree with early-onset bilateral cataracts...
  15. pmc Reduction of porphyrins to porphyrinogens with palladium on carbon
    Hector A Bergonia
    Department of Medicine, Division of Hematology, University of Utah School of Medicine, 5C330 SOM Hematology, 30 N 1900 E, Salt Lake City, UT 84132, USA
    Anal Biochem 384:74-8. 2009
    ..The palladium catalyst is removed by filtration, the filtrate is blown dry with an inert gas, and the dried porphyrinogen can be dissolved in a buffer compatible with biological studies...
  16. ncbi request reprint Biosynthesis of heme in mammals
    Richard S Ajioka
    Department of Internal Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Biochim Biophys Acta 1763:723-36. 2006
    ..The biochemistry, structural biology and the mechanisms of tissue-specific regulation are presented in this review along with the key features of the porphyric disorders...
  17. ncbi request reprint Progressive disease in chronic lymphocytic leukemia is correlated with the DNA methylation index
    Margaret K Yu
    School of Medicine, Division of Hematology, Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA
    Leuk Res 31:773-7. 2007
    ..Using Cox proportional hazard models for MI, adjusting for age and white blood cell count, only the DNA MI correlated with early clinical indications for systemic therapy (p=0.0038, HR=7.00, 95% CI: 1.90-26.20)...
  18. ncbi request reprint Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure
    Michael R Franklin
    Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA
    Hepatology 36:805-11. 2002
    ..In conclusion, the expression of the uroporphyric phenotype, dependent on the susceptibility imparted by a genetic mutation, provides a uniquely facile model for dissecting the molecular pathogenesis of the disease...
  19. ncbi request reprint Structures along the catalytic pathway of PrmC/HemK, an N5-glutamine AdoMet-dependent methyltransferase
    Heidi L Schubert
    Department of Biochemistry, University of Utah, Salt Lake City, Utah 84132 3201, USA
    Biochemistry 42:5592-9. 2003
    ..These structures, therefore, represent intermediates along the catalytic pathway of PrmC and show how the (D/N)PPY motif can be used to select a wide variety substrates...
  20. pmc Molecular basis of two novel mutations found in type I methemoglobinemia
    Felipe R Lorenzo
    Internal Medicine, Hematology Division, University of Utah School of Medicine, Salt Lake City, 84132, USA
    Blood Cells Mol Dis 46:277-81. 2011
    ..Kinetic and thermodynamic studies of these proteins show that the above mutations lead to decreased thermal stability...
  21. ncbi request reprint Fast track to the porphyrias
    John D Phillips
    Nat Med 11:1049-50. 2005
  22. ncbi request reprint Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient
    Reiko Akagi
    Okayama Prefectural University, Japan
    Br J Haematol 132:237-43. 2006
    ..This patient thus represents the first case of porphyria where both CPO and ALAD deficiencies were demonstrated at the molecular level...
  23. ncbi request reprint Gene expression patterns that correlate with hepatitis C and early progression to fibrosis in liver transplant recipients
    Maria W Smith
    Department of Microbiology, School of Medicine, University of Washington, Seattle, Washington 98195 8070, USA
    Gastroenterology 130:179-87. 2006
    ..Our goals were to identify molecular processes influencing the liver disease progression and to find potential gene markers of early fibrosis...
  24. ncbi request reprint Identification of a human heme exporter that is essential for erythropoiesis
    John G Quigley
    Department of Medicine Hematology, University of Washington, Seattle 98195, USA
    Cell 118:757-66. 2004
    ..Studies of FLVCR expression in cell lines suggest this exporter also impacts heme trafficking in intestine and liver. To our knowledge, this is the first description of a mammalian heme transporter...