Research Topics
Genomes and Genes
| John D PhillipsSummaryAffiliation: University of Utah Country: USA Publications
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Detail Information
Publications
Uroporphyria in the Cyp1a2-/- mouseJohn 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....- Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyriaJohn 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... - Substrate shuttling between active sites of uroporphyrinogen decarboxylase is not required to generate coproporphyrinogenJohn 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.... - Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylaseJohn D Phillips
Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
EMBO J 22:6225-33. 2003.... 
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...- A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tardaJohn 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... - Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiaeJohn 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... - The hepcidin-binding site on ferroportin is evolutionarily conservedIvana 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... - Down-regulation of hepcidin in porphyria cutanea tardaRichard 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... - Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complexFrank 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... 
Gain-of-function mutations identify amino acids within transmembrane domains of the yeast vacuolar transporter Zrc1 that determine metal specificityHuilan 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...- Structure and mechanistic implications of a uroporphyrinogen III synthase-product complexHeidi 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... - Sampangine inhibits heme biosynthesis in both yeast and humanZhiwei 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... - Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndromeJohn 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... - Reduction of porphyrins to porphyrinogens with palladium on carbonHector 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... - Biosynthesis of heme in mammalsRichard 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... - Progressive disease in chronic lymphocytic leukemia is correlated with the DNA methylation indexMargaret 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)... - Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposureMichael 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... - Structures along the catalytic pathway of PrmC/HemK, an N5-glutamine AdoMet-dependent methyltransferaseHeidi 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... - Molecular basis of two novel mutations found in type I methemoglobinemiaFelipe 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... - Fast track to the porphyriasJohn D Phillips
Nat Med 11:1049-50. 2005 - Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patientReiko 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... - Gene expression patterns that correlate with hepatitis C and early progression to fibrosis in liver transplant recipientsMaria W Smith
Department of Microbiology, School of Medicine, University of Washington, Seattle, Washington 98195-8070, USA
Gastroenterology 130:179-87. 2006..CONCLUSIONS: The identified gene expression patterns may prove useful for diagnostic and prognostic applications in HCV-infected patients, including predicting early progression to fibrosis... - Identification of a human heme exporter that is essential for erythropoiesisJohn 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...