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John D. Phillips

John D. Phillips, PhD

Languages spoken: English

Academic Information

Departments Primary - Internal Medicine

Divisions: Hematology

Academic Office Information

John D. Phillips, Ph.D. is a Research Professor in the Division of Hematology and Hematologic Malignancies, Department of Internal Medicine at the University of Utah. In addition, he is an Adjunct Associate Professor in the Department of Pathology. Dr. Phillips is also Director of the University of Utah Health Sciences Center (HSC) Core Research Facilities. His research focuses on porphyria and porphyrin biosynthesis. Dr. Phillips obtained his B.S. from University of New Hampshire, and then his Ph.D. from Dartmouth College.

Education History

Research Fellow University of Utah
Postdoctoral Research Fellow
Dartmouth College
Undergraduate University of New Hampshire

Selected Publications

Journal Article

  1. Rondelli CM, Perfetto M, Danoff A, Bergonia H, Gillis S, ONeill L, Jackson L, Nicolas G, Puy H, West R, Phillips JD, Yien YY (2021). The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover. J Biol Chem, 297(2), 100972. (Read full article)
  2. Saberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani M (2020). Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology, 73(5), 1736-1746. (Read full article)
  3. Tonna JE, Pierce J, Hatton N, Lewis G, Phillips JD, Messina A, Skidmore CR, Taylor K, Selzman CH (2021). Safety and feasibility of using acellular sterile filtered amniotic fluid as a treatment for patients with COVID-19: protocol for a randomised, double-blinded, placebo-controlled clinical trial. BMJ Open, 11(2), e045162. (Read full article)
  4. Selzman CH, Tonna JE, Pierce J, Vargas C, Skidmore C, Lewis G, Hatton ND, Phillips JD (2021). A pilot trial of human amniotic fluid for the treatment of COVID-19. BMC Res Notes, 14(1), 32. (Read full article)
  5. Seguin A, Jia X, Earl AM, Li L, Wallace J, Qiu A, Bradley T, Shrestha R, Troadec MB, Hockin M, Titen S, Warner DE, Dowdle PT, Wohlfahrt ME, Hillas E, Firpo MA, Phillips JD, Kaplan J, Paw BH, Barasch J, Ward DM (2020). The mitochondrial metal transporters mitoferrin1 and mitoferrin2 are required for liver regeneration and cell proliferation in mice. J Biol Chem, 295(32), 11002-11020. (Read full article)
  6. Crowther MD, Dolton G, Legut M, Caillaud ME, Lloyd A, Attaf M, Galloway SAE, Rius C, Farrell CP, Szomolay B, Ager A, Parker AL, Fuller A, Donia M, McCluskey J, Rossjohn J, Svane IM, Phillips JD, Sewell AK (2020). Author Correction: Genome-wide CRISPR-Cas9 screening reveals ubiquitous T cell cancer targeting via the monomorphic MHC class I-related protein MR1. Nat Immunol, 21(6), 695. (Read full article)
  7. Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stlzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE (2019). EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology, 71(5), 1546-1558. (Read full article)
  8. Naik H, Overbey JR, Montgomery GH, Winkel G, Balwani M, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, McGuire B, Keel S, Levy C, Erwin A, Desnick RJ (2019). Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. Genet Med, 22(3), 590-597. (Read full article)
  9. Crowther MD, Dolton G, Legut M, Caillaud ME, Lloyd A, Attaf M, Galloway SAE, Rius C, Farrell CP, Szomolay B, Ager A, Parker AL, Fuller A, Donia M, McCluskey J, Rossjohn J, Svane IM, Phillips JD, Sewell AK (2020). Genome-wide CRISPR-Cas9 screening reveals ubiquitous T cell cancer targeting via the monomorphic MHC class I-related protein MR1. Nat Immunol, 21(2), 178-185. (Read full article)
  10. Chalermwat C, Thosapornvichai T, Wongkittichote P, Phillips JD, Cox JE, Jensen AN, Wattanasirichaigoon D, Jensen LT (2019). Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p. FEMS Yeast Res, 19(8). (Read full article)
  11. Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martsek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ (2019). International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genet Med, 21(11), 2605-2613. (Read full article)
  12. Phillips JD (2019). Heme biosynthesis and the porphyrias. Mol Genet Metab, 128(3), 164-177. (Read full article)
  13. Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips JD (2019). Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Mol Genet Metab, 128(3), 309-313. (Read full article)
  14. Pek RH, Yuan X, Rietzschel N, Zhang J, Jackson L, Nishibori E, Ribeiro A, Simmons W, Jagadeesh J, Sugimoto H, Alam MZ, Garrett L, Haldar M, Ralle M, Phillips JD, Bodine DM, Hamza I (2019). Hemozoin produced by mammals confers heme tolerance. Elife, 8. (Read full article)
  15. Naik H, Overbey JR, Desnick RJ, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Wang B, Singal A, Balwani M (2019). Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. JIMD Rep, 50(1), 9-19. (Read full article)
  16. Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ (2018). Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Hum Mol Genet, 28(11), 1755-1767. (Read full article)
  17. Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M (2019). Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. J Inherit Metab Dis, 42(1), 186-194. (Read full article)
  18. Yien YY, Shi J, Chen C, Cheung JTM, Grillo AS, Shrestha R, Li L, Zhang X, Kafina MD, Kingsley PD, King MJ, Ablain J, Li H, Zon LI, Palis J, Burke MD, Bauer DE, Orkin SH, Koehler CM, Phillips JD, Kaplan J, Ward DM, Lodish HF, Paw BH (2018). FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. J Biol Chem, 293(51), 19797-19811. (Read full article)
  19. Gou E, Weng C, Greene T, Anderson KE, Phillips JD (2017). Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria. J Appl Lab Med, 3(2), 213-221. (Read full article)
  20. Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH (2014). TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest, 124(10), 4294-304. (Read full article)
  21. Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ, Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network (2013). Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med, 19, 26-35. (Read full article)
  22. Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z (2012). ABCB6 mutations cause ocular coloboma. Am J Hum Genet, 90(1), 40-8. (Read full article)
  23. Phillips JD, Kushner JP, Bergonia HA, Franklin MR (2011). Uroporphyria in the Cyp1a2-/- mouse. Blood Cells Mol Dis, 47(4), 249-54. (Read full article)
  24. Dailey HA, Septer AN, Daugherty L, Thames D, Gerdes S, Stabb EV, Dunn AK, Dailey TA, Phillips JD (2011). The Escherichia coli protein YfeX functions as a porphyrinogen oxidase, not a heme dechelatase. mBio, 2(6), e00248-11. (Read full article)
  25. Huang Z, Chen K, Xu T, Zhang J, Li Y, Li W, Agarwal AK, Clark AM, Phillips JD, Pan X (2011). Sampangine inhibits heme biosynthesis in both yeast and human. Eukaryot Cell, 10(11), 1536-44. (Read full article)
  26. To-Figueras J, Phillips JD, Gonzalez-Lpez JM, Badenas C, Madrigal I, Gonzlez-Romars EM, Ramos C, Aguirre JM, Herrero C (2011). Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol, 165(3), 499-505. (Read full article)
  27. Boynton TO, Gerdes S, Craven SH, Neidle EL, Phillips JD, Dailey HA (2011). Discovery of a gene involved in a third bacterial protoporphyrinogen oxidase activity through comparative genomic analysis and functional complementation. Appl Environ Microbiol, 77(14), 4795-801. (Read full article)
  28. Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips JD, Khalimonchuk O, Paw BH, Ward DM, Kaplan J (2011). Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood, 117(20), 5494-5502.
  29. Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT (2011). Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis, 46(4), 277-81. (Read full article)
  30. Arch DD, Bergeron M, Hathaway L, Kushner JP, Phillips JD, Franklin MR (2009). Longitudinal study of a mouse model of familial porphyria cutanea tarda. Cell Mol Biol (Noisy-le-grand), 55(2), 46-54. (Read full article)
  31. Phillips JD, Warby CA, Kushner JP (2005). Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. Am J Med Genet A, 134A(1), 77-9. (Read full article)
  32. Phillips JD, Whitby FG, Warby CA, Labbe P, Yang C, Pflugrath JW, Ferrara JD, Robinson H, Kushner JP, Hill CP (2004). Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae. J Biol Chem, 279(37), 38960-8. (Read full article)
  33. Phillips JD, Whitby FG, Warby CA, Labbe P, Yang C, Pflugrath JW, Ferrara JD, Robinson H, Kushner JP, Hill CP (2004). Crystal Structure of the Oxygen-dependent Coproporphyrinogen Oxidase (Hem13p) of Saccharomyces cerevisiae. J Biol Chem, 279, 38960-38968.
  34. Phillips JD, Whitby FG, Kushner JP, Hill CP (2003). Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J, 22(23), 6225-33. (Read full article)
  35. Schubert HL, Phillips JD, Hill CP (2003). Structures along the catalytic pathway of PrmC/HemK, an N5-glutamine AdoMet-dependent methyltransferase. Biochemistry, 42(19), 5592-9. (Read full article)
  36. Franklin MR, Phillips JD, Kushner JP (2002). Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure. Hepatology, 36(4 Pt 1), 805-11. (Read full article)
  37. Schubert HL, Raux E, Matthews MA, Phillips JD, Wilson KS, Hill CP, Warren MJ (2002). Structural diversity in metal ion chelation and the structure of uroporphyrinogen III synthase. Biochem Soc Trans, 30(4), 595-600. (Read full article)
  38. Whitby FG, Phillips JD, Hill CP, McCoubrey W, Maines MD (2002). Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complex. J Mol Biol, 319(5), 1199-210. (Read full article)
  39. Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP (2001). Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood, 98(12), 3179-85. (Read full article)
  40. Mathews MA, Schubert HL, Whitby FG, Alexander KJ, Schadick K, Bergonia HA, Phillips JD, Hill CP (2001). Crystal structure of human uroporphyrinogen III synthase. EMBO J, 20(21), 5832-9. (Read full article)
  41. Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner JP (2001). A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci U S A, 98(1), 259-64. (Read full article)
  42. Franklin MR, Phillips JD, Kushner JP (2002). Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus. J Biochem Mol Toxicol, 15(5), 287-93. (Read full article)
  43. Bulaj ZJ, Franklin MR, Phillips JD, Miller KL, Bergonia HA, Ajioka RS, Griffen LM, Guinee DJ, Edwards CQ, Kushner JP (2000). Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda. J Lab Clin Med, 136(6), 482-8. (Read full article)
  44. Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, Edwards CQ, Kushner JP (2000). Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med, 343(21), 1529-35. (Read full article)
  45. Franklin MR, Phillips JD, Kushner JP (2000). CYP3A-inducing agents and the attenuation of uroporphyrin accumulation and excretion in a rat model of porphyria cutanea tarda. Biochem Pharmacol, 60(9), 1325-31. (Read full article)
  46. Bulaj ZJ, Phillips JD, Ajioka RS, Franklin MR, Griffen LM, Guinee DJ, Edwards CQ, Kushner JP (2000). Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood, 95(5), 1565-71. (Read full article)
  47. Whitby FG, Phillips JD, Kushner JP, Hill CP (1998). Crystal structure of human uroporphyrinogen decarboxylase. EMBO J, 17(9), 2463-71. (Read full article)
  48. Franklin MR, Phillips JD, Kushner JP (1998). 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, 147(2), 289-99. (Read full article)
  49. Phillips JD, Whitby FG, Kushner JP, Hill CP (1997). Characterization and crystallization of human uroporphyrinogen decarboxylase. Protein Sci, 6(6), 1343-6. (Read full article)
  50. Phillips JD, Guo B, Yu Y, Brown FM, Leibold EA (1996). Expression and biochemical characterization of iron regulatory proteins 1 and 2 in Saccharomyces cerevisiae. Biochemistry, 35(49), 15704-14. (Read full article)
  51. Wyckoff EE, Phillips JD, Sowa AM, Franklin MR, Kushner JP (1996). Mutational analysis of human uroporphyrinogen decarboxylase. Biochim Biophys Acta, 1298(2), 294-304. (Read full article)
  52. Phillips JD, Kinikini DV, Yu Y, Guo B, Leibold EA (1996). Differential regulation of IRP1 and IRP2 by nitric oxide in rat hepatoma cells. Blood, 87(7), 2983-92. (Read full article)
  53. Guo B, Phillips JD, Yu Y, Leibold EA (1995). Iron regulates the intracellular degradation of iron regulatory protein 2 by the proteasome. J Biol Chem, 270(37), 21645-51. (Read full article)
  54. Guo B, Brown FM, Phillips JD, Yu Y, Leibold EA (1995). Characterization and expression of iron regulatory protein 2 (IRP2). Presence of multiple IRP2 transcripts regulated by intracellular iron levels. J Biol Chem, 270(28), 16529-35. (Read full article)

Case Report

  1. Moghe A, Ramanujam VMS, Phillips JD, Desnick RJ, Anderson KE (2019). Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. Mol Genet Metab Rep, 19, 100457. (Read full article)


  1. Wang B, Balwani M, Bonkovsky HL, Anderson KE, Bloomer JR, Bissell DM, Phillips JD, Desnick RJ, Porphyrias Consortium of the Rare Diseases Clinical Research Network (2018). Reply. [Letter to the editor]. Hepatology, 67(2), 803-804. (Read full article)