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John  Phillips

John Phillips

Selected Publications

Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ, Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology 2017 Oct;66(4):1314-1322

Phillips J, Yeo RA, Caprihan A, Cannon DC, Patel S, Winter S, Steffen M, Campbell R, Wiedmeier S, Baker S, Gonzales S, Lowe J, Ohls RK, Neuroimaging in former preterm children who received erythropoiesis stimulating agents. Pediatr Res 2017 Oct;82(4):685-690

Seguin A, Takahashi-Makise N, Yien YY, Huston NC, Whitman JC, Musso G, Wallace JA, Bradley T, Bergonia HA, Kafina MD, Matsumoto M, Igarashi K, Phillips JD, Paw BH, Kaplan J, Ward DM, Reductions in the mitochondrial ABC transporter Abcb10 affect the transcriptional profile of heme biosynthesis genes. J Biol Chem 2017 Sep 29;292(39):16284-16299

Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH, Mutation in human CLPX elevates levels of d-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A 2017 Sep 19;114(38):E8045-E8052

Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ, Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. JAMA Dermatol 2017 Aug 1;153(8):789-796

Yaish HM, Farrell CP, Christensen RD, MacQueen BC, Jackson LK, Trochez-Enciso J, Kaplan J, Ward DM, Salah WK, Phillips JD, Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child. Blood Cells Mol Dis 2017 Jun;65:38-40

Chung J, Wittig JG, Ghamari A, Maeda M, Dailey TA, Bergonia H, Kafina MD, Coughlin EE, Minogue CE, Hebert AS, Li L, Kaplan J, Lodish HF, Bauer DE, Orkin SH, Cantor AB, Maeda T, Phillips JD, Coon JJ, Pagliarini DJ, Dailey HA, Paw BH, Erythropoietin signaling regulates heme biosynthesis. Elife 2017 May 29;6:

Barton JC, Chen WP, Emond MJ, Phatak PD, Subramaniam VN, Adams PC, Gurrin LC, Anderson GJ, Ramm GA, Powell LW, Allen KJ, Phillips JD, Parker CJ, McLaren GD, McLaren CE, GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes. Blood Cells Mol Dis 2017 Mar;63:15-20

Saugstad JA, Lusardi TA, Van Keuren-Jensen KR, Phillips JI, Lind B, Harrington CA, McFarland TJ, Courtright AL, Reiman RA, Yeri AS, Kalani MYS, Adelson PD, Arango J, Nolan JP, Duggan E, Messer K, Akers JC, Galasko DR, Quinn JF, Carter BS, Hochberg FH, Analysis of extracellular RNA in cerebrospinal fluid. J Extracell Vesicles 2017;6(1):1317577

Torchia J, Golbourn B, Feng S, Ho KC, Sin-Chan P, Vasiljevic A, Norman JD, Guilhamon P, Garzia L, Agamez NR, Lu M, Chan TS, Picard D, de Antonellis P, Khuong-Quang DA, Planello AC, Zeller C, Barsyte-Lovejoy D, Lafay-Cousin L, Letourneau L, Bourgey M, Yu M, Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors. Cancer Cell 2016 Dec 12;30(6):891-908

Piel RB 3rd, Shiferaw MT, Vashisht AA, Marcero JR, Praissman JL, Phillips JD, Wohlschlegel JA, Medlock AE, A Novel Role for Progesterone Receptor Membrane Component 1 (PGRMC1): A Partner and Regulator of Ferrochelatase. Biochemistry 2016 Sep 20;55(37):5204-17

Farrell CP, Overbey JR, Naik H, Nance D, McLaren GD, McLaren CE, Zhou L, Desnick RJ, Parker CJ, Phillips JD, The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PLoS One 2016;11(9):e0163322

Yuan X, Rietzschel N, Kwon H, Walter Nuno AB, Hanna DA, Phillips JD, Raven EL, Reddi AR, Hamza I, Regulation of intracellular heme trafficking revealed by subcellular reporters. Proc Natl Acad Sci U S A 2016 Aug 30;113(35):E5144-52

Kim HJ, Jeong MY, Parnell TJ, Babst M, Phillips JD, Winge DR, The Plasma Membrane Protein Nce102 Implicated in Eisosome Formation Rescues a Heme Defect in Mitochondria. J Biol Chem 2016 Aug 12;291(33):17417-26

Byington CL, Keenan H, Phillips JD, Childs R, Wachs E, Berzins MA, Clark K, Torres MK, Abramson J, Lee V, Clark EB, A Matrix Mentoring Model That Effectively Supports Clinical and Translational Scientists and Increases Inclusion in Biomedical Research: Lessons From the University of Utah. Acad Med 2016 Apr;91(4):497-502

Ohls RK, Cannon DC, Phillips J, Caprihan A, Patel S, Winter S, Steffen M, Yeo RA, Campbell R, Wiedmeier S, Baker S, Gonzales S, Lowe J, Preschool Assessment of Preterm Infants Treated With Darbepoetin and Erythropoietin. Pediatrics 2016 Mar;137(3):e20153859

Gou EW, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Phillips JD, Singal AK, Wang B, Keel S, Anderson KE, Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. Clin Chem 2015 Dec;61(12):1453-6

Bergonia HA, Franklin MR, Kushner JP, Phillips JD, A method for determining d-aminolevulinic acid synthase activity in homogenized cells and tissues. Clin Biochem 2015 Aug;48(12):788-95

Farrell CP, Parker CJ, Phillips JD, Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis. Blood Cells Mol Dis 2015 Aug;55(2):101-3

Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Bissell DM, Bloomer J, Edwards C, Neumann NJ, Parker C, Phillips JD, Lim HW, Hamzavi I, Deybach JC, Kauppinen R, Rhodes LE, Frank J, Murphy GM, Karstens FPJ, Sijbrands EJG, de Rooij FWM, Lebw, Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med 2015 Jul 2;373(1):48-59

Egan DN, Yang Z, Phillips J, Abkowitz JL, Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. Blood 2015 Jul 9;126(2):257-61

Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ, Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Mol Med 2015 Jun 5;21:487-95

Dailey HA, Gerdes S, Dailey TA, Burch JS, Phillips JD, Noncanonical coproporphyrin-dependent bacterial heme biosynthesis pathway that does not use protoporphyrin. Proc Natl Acad Sci U S A 2015 Feb 17;112(7):2210-5

Medlock AE, Shiferaw MT, Marcero JR, Vashisht AA, Wohlschlegel JA, Phillips JD, Dailey HA, Identification of the Mitochondrial Heme Metabolism Complex. PLoS One 2015;10(8):e0135896

Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ, Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med 2014 Dec;127(12):1233-41

Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, New MI, Liebow A, Fitzgerald K, Querbes W, Desnick RJ, RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A 2014 May 27;111(21):7777-82

Phillips JD, Kushner JP, Bergonia HA, Franklin MR, Uroporphyria in the Cyp1a2-/- mouse. Blood Cells Mol Dis 2011 Dec 15;47(4):249-54

Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J, Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood 2011 May 19;117(20):5494-502

Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT, Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis 2011 Apr 15;46(4):277-81

Barker ML, Hathaway LB, Arch DD, Westbroek ML, Kushner JP, Phillips JD, Franklin MR, Hyper- and hypo-induction of cytochrome P450 activities with Aroclor 1254 and 3-methylcholanthrene in Cyp1a2(-/-) mice. Chem Biol Interact 2009 Dec 10;182(2-3):220-6

Lin H, Burton D, Li L, Warner DE, Phillips JD, Ward DM, Kaplan J, Gain-of-function mutations identify amino acids within transmembrane domains of the yeast vacuolar transporter Zrc1 that determine metal specificity. Biochem J 2009 Aug 13;422(2):273-83

Warby CA, Phillips JD, Bergonia HA, Whitby FG, Hill CP, Kushner JP, Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases. Cell Mol Biol (Noisy-le-grand) 2009 Jul 1;55(2):40-5

Arch DD, Bergeron M, Hathaway L, Kushner JP, Phillips JD, Franklin MR, Longitudinal study of a mouse model of familial porphyria cutanea tarda. Cell Mol Biol (Noisy-le-grand) 2009 Jul 1;55(2):46-54

Phillips JD, Warby CA, Whitby FG, Kushner JP, Hill CP, Substrate shuttling between active sites of uroporphyrinogen decarboxylase is not required to generate coproporphyrinogen. J Mol Biol 2009 Jun 5;389(2):306-14

Bergonia HA, Phillips JD, Kushner JP, Reduction of porphyrins to porphyrinogens with palladium on carbon. Anal Biochem 2009 Jan 1;384(1):74-8

Ajioka RS, Phillips JD, Weiss RB, Dunn DM, Smit MW, Proll SC, Katze MG, Kushner JP, Down-regulation of hepcidin in porphyria cutanea tarda. Blood 2008 Dec 1;112(12):4723-8

De Domenico I, Nemeth E, Nelson JM, Phillips JD, Ajioka RS, Kay MS, Kushner JP, Ganz T, Ward DM, Kaplan J, The hepcidin-binding site on ferroportin is evolutionarily conserved. Cell Metab 2008 Aug;8(2):146-56

Schubert HL, Phillips JD, Heroux A, Hill CP, Structure and mechanistic implications of a uroporphyrinogen III synthase-product complex. Biochemistry 2008 Aug 19;47(33):8648-55

Yu MK, Bergonia H, Szabo A, Phillips JD, Progressive disease in chronic lymphocytic leukemia is correlated with the DNA methylation index. Leuk Res 2007 Jun;31(6):773-7

Phillips JD, Bergonia HA, Reilly CA, Franklin MR, Kushner JP, A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A 2007 Mar 20;104(12):5079-84

Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP, Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007 Mar 15;109(6):2618-21

Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP, Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). Transl Res 2007 Feb;149(2):85-91

Ajioka RS, Phillips JD, Kushner JP, Biosynthesis of heme in mammals. Biochim Biophys Acta 2006 Jul;1763(7):723-36

Franklin MR, Phillips JD, Kushner JP, Attenuation of polychlorinated biphenyl induced uroporphyria by iron deprivation. Environ Toxicol Pharmacol 2005 Nov;20(3):417-23

Phillips JD, Warby CA, Kushner JP, Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. Am J Med Genet A 2005 Apr 1;134A(1):77-9

Phillips JD, Whitby FG, Warby CA, Labbe P, Yang C, Pflugrath JW, Ferrara JD, Robinson H, Kushner JP, Hill CP, Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae. J Biol Chem 2004 Sep 10;279(37):38960-8

Phillips JD, Whitby FG, Kushner JP, Hill CP, Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J 2003 Dec 1;22(23):6225-33

Schubert HL, Phillips JD, Hill CP, Structures along the catalytic pathway of PrmC/HemK, an N5-glutamine AdoMet-dependent methyltransferase. Biochemistry 2003 May 20;42(19):5592-9

Franklin MR, Phillips JD, Kushner JP, Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure. Hepatology 2002 Oct;36(4 Pt 1):805-11

Schubert HL, Raux E, Matthews MA, Phillips JD, Wilson KS, Hill CP, Warren MJ, Structural diversity in metal ion chelation and the structure of uroporphyrinogen III synthase. Biochem Soc Trans 2002 Aug;30(4):595-600

Whitby FG, Phillips JD, Hill CP, McCoubrey W, Maines MD, Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complex. J Mol Biol 2002 Jun 21;319(5):1199-210

Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP, Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood 2001 Dec 1;98(12):3179-85

Mathews MA, Schubert HL, Whitby FG, Alexander KJ, Schadick K, Bergonia HA, Phillips JD, Hill CP, Crystal structure of human uroporphyrinogen III synthase. EMBO J 2001 Nov 1;20(21):5832-9

Phillips JD, Kushner JP, Measurement of uroporphyrinogen decarboxylase activity. Curr Protoc Toxicol 2001 May;Chapter 8:Unit 8.4

Phillips JD, Kushner JP, The heme biosynthesis pathway and clinical manifestations of abnormal function. Curr Protoc Toxicol 2001 May;Chapter 8:Unit 8.1

Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner JP, A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci U S A 2001 Jan 2;98(1):259-64

Franklin MR, Phillips JD, Kushner JP, Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus. J Biochem Mol Toxicol 2001;15(5):287-93

Bulaj ZJ, Franklin MR, Phillips JD, Miller KL, Bergonia HA, Ajioka RS, Griffen LM, Guinee DJ, Edwards CQ, Kushner JP, Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda. J Lab Clin Med 2000 Dec;136(6):482-8

Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, Edwards CQ, Kushner JP, Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000 Nov 23;343(21):1529-35

Franklin MR, Phillips JD, Kushner JP, CYP3A-inducing agents and the attenuation of uroporphyrin accumulation and excretion in a rat model of porphyria cutanea tarda. Biochem Pharmacol 2000 Nov 1;60(9):1325-31

Bulaj ZJ, Phillips JD, Ajioka RS, Franklin MR, Griffen LM, Guinee DJ, Edwards CQ, Kushner JP, Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 2000 Mar 1;95(5):1565-71

Whitby FG, Phillips JD, Kushner JP, Hill CP, Crystal structure of human uroporphyrinogen decarboxylase. EMBO J 1998 May 1;17(9):2463-71

Franklin MR, Phillips JD, Kushner JP, Cytochrome P450 induction, uroporphyrinogen decarboxylase depression, porphyrin accumulation and excretion, and gender influence in a 3-week rat model of porphyria cutanea tarda. Toxicol Appl Pharmacol 1997 Dec;147(2):289-99

Whitby FG, Luecke H, Kuhn P, Somoza JR, Huete-Perez JA, Phillips JD, Hill CP, Fletterick RJ, Wang CC, Crystal structure of Tritrichomonas foetus inosine-5'-monophosphate dehydrogenase and the enzyme-product complex. Biochemistry 1997 Sep 2;36(35):10666-74

Phillips JD, Whitby FG, Kushner JP, Hill CP, Characterization and crystallization of human uroporphyrinogen decarboxylase. Protein Sci 1997 Jun;6(6):1343-6

Wyckoff EE, Phillips JD, Sowa AM, Franklin MR, Kushner JP, Mutational analysis of human uroporphyrinogen decarboxylase. Biochim Biophys Acta 1996 Dec 5;1298(2):294-304

Phillips JD, Guo B, Yu Y, Brown FM, Leibold EA, Expression and biochemical characterization of iron regulatory proteins 1 and 2 in Saccharomyces cerevisiae. Biochemistry 1996 Dec 10;35(49):15704-14

Phillips JD, Kinikini DV, Yu Y, Guo B, Leibold EA, Differential regulation of IRP1 and IRP2 by nitric oxide in rat hepatoma cells. Blood 1996 Apr 1;87(7):2983-92

Guo B, Phillips JD, Yu Y, Leibold EA, Iron regulates the intracellular degradation of iron regulatory protein 2 by the proteasome. J Biol Chem 1995 Sep 15;270(37):21645-51

Guo B, Brown FM, Phillips JD, Yu Y, Leibold EA, Characterization and expression of iron regulatory protein 2 (IRP2). Presence of multiple IRP2 transcripts regulated by intracellular iron levels. J Biol Chem 1995 Jul 14;270(28):16529-35