Sally Stabler, MD

Professional Titles

• Former Co-Head, Division of Hematology

Recognitions

• Invited Participant and Speaker, 10th International Conference - One-Carbon Metabolism, Vitamins B and Homocysteine in Nancy, France (2015)
• Elected to be Co-organizer, FASEB Summer Research Conference: Folic Acid, Vitamin B12 and One-Carbon Metabolism (2014)
• Elected to be Co-organizer, FASEB Summer Research Conference: Folic Acid, Vitamin B12 and One-Carbon Metabolism (2012)

Research Interests

Publications

• Metabolism 54:351-60
• Stroke 36:1207-11
• J Nutr Elder 24:47-65
• CMA 172:1569-73
• J Inherit Metab Dis 28:885-902
• Free Radic Biol Med 40:348-58
• Clinical Hematology 242-251
• Blood disorders of the Elderly
• Yan J, Jiang X, West AA, Perry CA, Malysheva OV, Brenna JT, Stabler SP, Allen RH, Gregory JF 3rd, Caudill MA. Pregnancy alters choline dynamics: results of a randomized trial using stable isotope methodology in pregnant and nonpregnant women. Am J Clin Nutr. 2013 Dec;98(6):1459-67. PubMed PMID: 24132975
• Joachim E, Goldenberg NA, Bernard TJ, Armstrong-Wells J, Stabler S, Manco-Johnson MJ. The methylenetetrahydrofolate reductase polymorphism (MTHFR c.677C>T) and elevated plasma homocysteine levels in a U.S. pediatric population with incident thromboembolism. Thromb Res. 2013 Aug;132(2):170-4. PubMed PMID: 23866722
• Walter S ,Stabler S, Lefkowitz JB ,Haemophilia. 2006 Jul;12(4):393-7 Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding
• Stabler SP, Korson M, Jethva R, Allen RH, Kraus JP, Spector EB, Wagner C, Mudd SH. Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. JIMD Rep. 2013;11:149-63. PubMed PMID: 23733603
• Buist NR, Glenn B, Vugrek O, Wagner C, Stabler S, Allen RH, Pogribney I, Schulqe A, Zeisel SH, Baric I, Mudd SH U Interit Metab Dis. 2006 Aug:29(4):538-45 S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man
• Abarinov EV, Beaudin AE, Field MS, Perry CA, Allen RH, Stabler SP, Stover PJ. Disruption of shmt1 impairs hippocampal neurogenesis and mnemonic function in mice. J Nutr. 2013 Jul;143(7):1028-35. PubMed PMID: 23700346
• Delaney C, Garg SK, Fernandes C, Hoeltzel M, Allen RH, Stabler S, Yung R. Maternal diet supplemented with methyl-donors protects against atherosclerosis in F1 ApoE(-/-) mice. PLoS One. 2013;8(2):e56253. PubMed PMID: 23437105
• Chandler RJ, Aswani V, Tsai MS, Falk M Wehrli N, Stabler S, Allen R, Sedensky M, Kaqaqian HH, Venditti CP Mol Genet Metab 2006 Sep-Oct;89(1-2):64-73 Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabitis elegans" evidence for a role of methylmalonyl CoA epimerase in intermediary metabolism
• Davey A, Dai T, Woodard JL, Miller LS, Gondo Y, Johnson MA, Hausman DB, Martin P, Green RC, Allen RH, Stabler SP, Poon LW, Georgia Centenarian. Profiles of cognitive functioning in a population-based sample of centenarians using factor mixture analysis. Exp Aging Res. 2013;39(2):125-44. PubMed PMID: 23421635
• Moat SJ, Madhavan A, Taylor SY , Payne N, Allen RH, Stabler SP, Goodfellow J, McDowell IF, Lewis MJ, Lang D. Eur J Clin Invest. 2006 Dec;36(12):850-9 High- but not low-dose folic acid improves endothelial function in coronary artery disease
• Field MS, Shields KS, Abarinov EV, Malysheva OV, Allen RH, Stabler SP, Ash JA, Strupp BJ, Stover PJ, Caudill MA. Reduced MTHFD1 activity in male mice perturbs folate- and choline-dependent one-carbon metabolism as well as transsulfuration. J Nutr. 2013 Jan;143(1):41-5. PubMed PMID: 23190757
• Stabler SP. Vitamin B12 deficiency. N Engl J Med. 2013 May 23;368(21):2041-2. PubMed PMID: 23697526
• Stabler SP, Allen RH, Dolce ET, Johnson MA Am J of Clin Nutrit. 2006 Dec;84(6):1422-9 Elevated serum S-adenosylhomocysteine in cobalamin-deficient elderly and response to treatment
• Mudd SH, Brosnan,Jt, Brosnan ME, Jacobs RL, Stabler SP, Allen RH, Vance DE, Wagner C Am J Clin Nutrit. 2007 Jan;85(1):19-25 Methyl balance and transmethylation fluxes in humans
• Guerra-Shinohara EM, Morita OE, Pagliusi RA, Blaia-d'Avila VL, Allen RH, Stabler SP Metabolism Clinical and Experimental 56(2007)339-347 Elevated serum S-adenosylhomocysteine in cobalamin-deficient anemia
• Park,S, Johnson MA, Shea-Miller K, DeChicchis AR, Allen RH, Stabler SP J Nutrit Elderly in press
• Barbosa PR, Stabler SP, Trentin R, Carvalho FR, Luchessi AD, Hirata RD, Hirata MH, Allen RH, Guerra-Shinohara EM Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine?S-adenosylhomocysteine values in Brazilian childbearing-age women. Clin Chim Acta 2008:388:139-47 PMID: 18023275
• Sekhar J, Stabler SP. Life-threatening megaloblastic pancytopenia with normal mean cell volume: Case series. Eur J Intern Med. 2007: 18:548-50 PMID 17967337
• Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP BMC Med Genet. 2007:8:64 PMID: 17937813
• Jiang H, Stabler SP, Allen RH, Abman SH, Maclean KN. Altered hepatic sulfur metabolism in cystathionine ß-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways. FASEB J. 2014 Jun 2. [Epub ahead of print] PubMed PMID: 24891521
• Quintana AM, Geiger EA, Achilly N, Rosenblatt DS, Maclean KN, Stabler SP, Artinger KB, Appel B, Shaikh TH. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Dev Biol. 2014 Dec 1;396(1):94-106. PubMed PMID: 25281006
• Vivitsky V, Prudova A, Stabler S, Dayal S, Lentz, SR, Banerjee R. Testosterone regulation of renal cystathionine beta-synthase: implications for sex-dependent differences in plasma homocysteine levels. Am J Physiol Renal Physiol. 2007: 293(2):F594-6000 PMID: 17537983
• Matteini, AM, Walston, JD, Fallin, MD, Bandeen-Roche, K, Kao, WHL, Semba,RD, Allen, RH, Guralanik,J, Freid, LP, Stabler, SP Markers of B-vitamin deficiency and fraility in older women, J Nutrit, Health and Aging, 2008 in press
• Allen,RH and Stabler SP, Identification and quantitation of cobalamin and cobalamin analogues in human feces. AJCN, 2008:87
• Sørensen JT, Gaustadnes M, Stabler SP, Allen RH, Mudd SH, Hvas AM. Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia. Mol Genet Metab. 2015 Dec 23. [Epub ahead of print] PubMed PMID: 26750749
• Matteini AM, Walston WD, Fallen MD, bandeen-Roche K, Kao WH, Semba RD, Allen RH, Guralnik J, Fried LP, Stabler SP. Markers of B-vitamin deficiency and frailty in older women. J Nutrit. Health and Aging. 2008 May:12:303-8
• Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20;10:99. PubMed PMID: 26289392
• Jiang H, Hurt KJ, Breen K, Stabler SP, Allen RH, Orlicky DJ, Maclean KN. Sex-specific dysregulation of cysteine oxidation and the methionine and folate cycles in female cystathionine gamma-lyase null mice: a serendipitous model of the methylfolate trap. Biol Open. 2015 Aug 14;4(9):1154-62. PubMed PMID: 26276101
• Allen RH, Stabler SP. Identification and quantitation of cobalamin and cobalamin analogues in human feces. Am J Clin Nutr. 2008 May:87:1324-35
• Blatch SA, Stabler SP, Harrison JF. The effects of folate intake on DNA and single-carbon pathway metabolism in the fruit fly Drosophila melanogaster compared to mammals. Comp Biochem Physiol B Biochem Mol Biol. 2015 Nov;189:34-9. PubMed PMID: 26219578
• macFarlane AJ, Liu X, Perry CA, Flodby P, Allen RH, Stabler SP, Stover PJ Cytoplasmic serine hydroxymethyltransferase regulates the metabolic partioning of methylenetetrahydrofolate but is not essential in mice. J Biol Chem 2008 Sept 283;25846-53.
• Davenport C, Yan J, Taesuwan S, Shields K, West AA, Jiang X, Perry CA, Malysheva OV, Stabler SP, Allen RH, Caudill MA. Choline intakes exceeding recommendations during human lactation improve breast milk choline content by increasing PEMT pathway metabolites. J Nutr Biochem. 2015 Sep;26(9):903-11. PubMed PMID: 26025328
• Lopreato FR, Stabler SP, Carvalho FR, Hirata RD, Hirata MH, Robi DL, Sampaio-Neto LF, Allen RH, Guerra-Shinohara EM. Relationships between gene polymorphisms of folate related proteins and vitamins and metabolites in pregnant women and neonates. Clin Chim Acta 2008 Dec 398:134-9
• Panayiotidis MI, Stabler SP, Allen RH, Pappa A, White CW Oxidative stress-induced regulation of the methionine metabolic pathway in human lung epithelial-like (A549) cells. Mutat Res. 2009 Mar: 674:23-30
• MacFarlane AJ, Perry CA, Girnary HH, Gao D, Allen RH, Stabler SP, Shane B, Stover PJ. Mthfd 1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism. J Biol Chem. 2009 Jan: 284:1533-9
• Stabler SP Clinical folate deficiency in Folate in Health and Disease ed. Bailey L, 2nd edition Marcel Dekker Inc, NY,NY.
• Bae S, West AA, Yan J, Jiang X, Perry CA, Malysheva O, Stabler SP, Allen RH, Caudill MA. Vitamin B-12 Status Differs among Pregnant, Lactating, and Control Women with Equivalent Nutrient Intakes. J Nutr. 2015 Jul;145(7):1507-14. PubMed PMID: 25995278
• Blom HJ, Stabler S, Wagner C. In memoriam: S. Harvey Mudd. Am J Med Genet A. 2015 May;167A(5):994-6. PubMed PMID: 25820490
• Kurnat-Thoma EL, Pangilinan F, Matteini AM, Wong B, Pepper GA, Stabler SP, Guralnik JM, Brody LC. Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women. Biol Res Nurs. 2015 Jul;17(4):444-54. PubMed PMID: 25657319
• Kraus JP, Hasek J, Kozich V, Collard R, Venezia S, Janosikova B, Wang J, Stabler SP, Allen RH, Jakobs C, Finn CT, Chien YH, Hwu WL, Hegele RA, Mudd SH. Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. Mol Benet Metab 2009 97:250-9
• Stabler SP. Anemias due to essential nutrient deficiencies. World Rev Nutr Diet. 2015;111:164-8. PubMed PMID: 25418407
• Brito A, Chiquette J, Stabler SP, Allen RH, Girard CL. Supplementing lactating dairy cows with a vitamin B12 precursor, 5,6-dimethylbenzimidazole, increases the apparent ruminal synthesis of vitamin B12. Animal. 2015 Jan;9(1):67-75. PubMed PMID: 25171056
• Ragni MV, Ojeifo O, Feng J, Yan J, Hill KA, Sommer SS, Trucco MN, Brambilla DJ: Hemophilia Inhibitor Study. Risk factors for inhibitor formation in haemophilia: a prevalent case-control study. Haemophilia. 2009 15:1074-82
• Stabler SP, Sekhar J, Allen RH, O'Neill HC, White CW. Alpha-lipoic acid induces elevated S-adenosylhomocysteine and depletes S-adenosylmethionine. Free Radic Biol Med. 2009 47:1147-53
• Girard CL, Santschi DE, Stabler SP, Allen RH. Apparent ruminal synthesis and intestinal disappearance of vitamin B12 and its analogs in dairy cows. J Dairy Sci 2009:92:4524-9
• Vanderjagt DJ, Ujah IA, Patel A, Kellywood J, Crossey MJ, Allen RH, Stabler SP, Obande OS, Glew RH. Subclinical vitamin B12 deficiency in pregnant women attending an antenatal clinic in Nigeria. J Obstet Gynaecol. 2009: 29:288-95.
• Sørensen JT, Gaustadnes M, Stabler SP, Allen RH, Mudd SH, Hvas AM. Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia. Mol Genet Metab. 2016 Mar;117(3):344-50. PubMed PMID: 26750749
• Guerra-Shinohara EM, Pereira PM, Kubota AM, Silva TA, Reis JL, Miyashita GS, D'Almeida V, Allen RH, Stabler SP. Increased MMA concentration and body mass indes are associated with spontaneous abortion in Brazilian women:a pilot study. Clin Cmim Acta. 2010:411:423-7
• Kelly KB, Kennelly JP, Ordonez M, Nelson R, Leonard K, Stabler S, Gomez-Muñoz A, Field CJ, Jacobs RL. Excess Folic Acid Increases Lipid Storage, Weight Gain, and Adipose Tissue Inflammation in High Fat Diet-Fed Rats. Nutrients. 2016 Sep 23;8(10). PubMed PMID: 27669293
• Antony A, Tang Y-S, Khan R, Xiao s,Hansen D, Stabler S, Kusmanchi P, Jayaram H Evidence favoring a positive feedback loop for physiological auto up-regulation of heterogeneous nuclear ribonucleprotein E1 (hnRNP-E1) during prolonged folate deficiency in human placental cells. 2016, J. Nutrition in press
• Bor MV, von Castel-Roberts KM, Kauwell GP, Stabler SP, Allen RH, Maneval DR, Bailey LB, Nexo E. Dailey intake of 4 to 7 microg dietary vitamin B-12 is asociated with steady concentrations of vitamin B12-related biomarkers in a healthy young population. Am J Clin Nutr. 2010:91:571-7
• Green R, Miller J, Molloy A, Toh B-H, Gueant J-L, Nexo E, Ueland P, Yajnik C, Monsen A, Allen L, Stabler S, Brito A, Vitamin B12 deficiency. Nature Reviews Disease Primers, 2017 in press
• Stabler S, Freehauf C, Allen R, Thomas J, Gallagher R, Potential misdiagnosis of hyperhomocysteinemia due to cystathionine beta synthase deficiency during pregnancy. J of Inherited Metabolic Disease Reports 2017 in press
• Matteini AM, Walston JD, Bandeen-Roche K, Arking DE, Allen RH, Fried LP, Chakravarti A, Stabler SP, Fallin MD. Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. J Nutr Health Aging 2010:14:73-7.
• Johnson MA, Hausman DB, Davey A, Poon LW, Allen RH, Stabler SP:Georgia Centenarian Study. Vitamin B12 deficiency in African American and white octogenarians and centenarians in Georgia. J Nutr Health Aging 2010:14:339-45
• Medici V, Peerson JM, Stabler SP, French SW, Gregory III JF, Virata MC, Albanese A, Bowlus CL, Devaraj S, Panacek EA, Rahim N, Richards JR, Rossaro L, Halsted CH. Impaired homocysteine transsulfuration is a predictor of alcoholic liver disease J Hepatol, in press
• Stabler SP. Clinical Folate Deficiency in Folate in Health and Disease, L Bailey (Ed), Taylor and Francis Group LLC., 2nd ed., 2009
• Medici V, Peerson JM, Stabler SP, French SW, Gregory JF 3rd, Virata MC, Albanese A, Bowlus CL, Devaraj S, Panacek EA, Rahim N, Richards JR, Rossaro L, Halsted CH. Impaired homocysteine transsulfuration is an indicator of alcoholic liver disease. J Hepatol. 53(3)551-7
• Tang YS, Khan RA, Xiao S, Hansen DK, Stabler SP, Kusumanchi P, Jayaram HN, Antony AC. Evidence Favoring a Positive Feedback Loop for Physiologic Auto Upregulation of hnRNP-E1 during Prolonged Folate Deficiency in Human Placental Cells. J Nutr. 2017 Apr;147(4):482-498. PubMed PMID: 28250194
• Maclean KN, Sikora J, Kozich V, Jiang H, Greiner LS, Kraus E, Kriut j, Overdier KH, Collard R, Brodsky GL, Meltesen L, Crnic LS, Allen RH, Stabler SP, Elleder M, Rozen R, Patterson D, Kraus JP. A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhivits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab. 101(2-3):153-62
• Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. JIMD Rep. 2017;37:55-61. PubMed PMID: 28275971
• Maclean KN, Sikora J Kozich V, Jiang H, Greiner LS, Kraus E, Krijt J, crnic LS, Allen RH, Stabler SP, Elleder M, Kraus JP.Mol Genet Metab 10192-30:163-71
• Fernandez-Irigoyen J, Santamaria E, Chien YH, Hwu WL, Korman SH, Raghfoury H, Schulze A, Hoganson GE, Stabler SP, Allen RH, Wagner C, Mudd SH, Corrales FJ. Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethionemia. Mol Genet Metab> 101(2-3):172-7
• Jacobs RL, Jiang H, Kennelly JP, Orlicky DJ, Allen RH, Stabler SP, Maclean KN. Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria. Mol Genet Metab. 2017 Apr;120(4):325-336. PubMed PMID: 28291718
• Green R, Allen LH, Bjørke-Monsen AL, Brito A, Guéant JL, Miller JW, Molloy AM, Nexo E, Stabler S, Toh BH, Ueland PM, Yajnik C. Vitamin B(12) deficiency. Nat Rev Dis Primers. 2017 Jun 29;3:17040. PubMed PMID: 28660890
• Maclean KN, Jiang H, Aivazidis S, Kim E, Shearn CT, Harris PS, Petersen DR, Allen RH, Stabler SP, Roede JR. Taurine treatment prevents derangement of the hepatic ?-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism. FASEB J. 2017 Nov 3. [Epub ahead of print] PubMed PMID: 29101223
• McDonald MK, Fritz JA, Jia D, Scheuchner D, Snyder FF, Stanislaus A, Curle J, Li L, Stabler SP, Allen RH, Mains PE, Gravel RA. Identification of ABC transporters acting in vitamin B(12) metabolism in Caenorhabditis elegans. Mol Genet Metab. 2017 Dec;122(4):160-171. PubMed PMID: 29153845
• Eyring KR, Pedersen BS, Maclean KN, Stabler SP, Yang IV, Schwartz DA. Methylene-tetrahydrofolate reductase contributes to allergic airway disease. PLoS One. 2018;13(1):e0190916. PubMed PMID: 29329322
• Ragni MV, Moore CG, Soadwa K, Nalesnik MA, Zajko Ab, Cortese-Hassett A, Whiteside TL, Hart S, zeevi A, Li J, Shaikh OS; HHH Study Group. Impact of HIV on liver fibrosis in men with hepatitis C infection and haemophilia. Haemophilia 17(1):103-11.
• Clinical Dilemma. ASH Clinical News 12:6,2017
• Grubbs R, Vugrek O, Deisch J, Wagner C, Stabler S, Allen R, Baric I, Rados M, Mudd SH. S-adenosylhomochsteine hydrolase deficiency"two siblings with fetal hydrops and fatal outcomes. J Inherit Metab Dis 33(6)"705-13.
• Megaloblastic Anemias . In: Goldman-Cecil Medicine 26th Edition, L Goldman, AI Schafer (Eds), Elsevier, Philadelphia, PA, 2018.
• Yan J, Wang W, Gregory JF 3rd, Malyshema O, Brenna JT, Stabler SP, Allen RH, Caudill MA. MTHFR C677T genotype influences the isotopic enrichment of one-carbon metabolites in folate-compromised men consuming d9-choline. Am J Clin Nutr. 93(2):348-55.
• Beaudin AE, Abarinov EV, Noden DM, Perry CA, Chu S, Stabler SP, Allen RH, Stover PJ. Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice.. Am J Clin Nutr. 93(4):789-98
• Hausman DB, Johnson MA, Davey A, Woodard JL, Poon LW, Allen RH, Stabler SP. The Oldest Old: Red blood cell and plasma folate in african american and white octogenarians and centenarians in Georgia. J of Nutri Health Aging in press
• Wiedel J, Stabler S, Geraghty S, Funk S. Joint replacement surgery in hemophilia. World Federation of Hemophilia: Treatment of Hemophilia Monograph, 50:1-10, 2010
• Xiao S, Tang YS, Kusumanchi P, Stabler SP, Zhang Y, Antony AC. Folate Deficiency Facilitates Genomic Integration of Human Papillomavirus Type 16 DNA In Vivo in a Novel Mouse Model for Rapid Oncogenic Transformation of Human Keratinocytes. J Nutr. 2018 Mar 1;148(3):389-400. PubMed PMID: 29546304
• Palmer AM, Misslebeck K, Marchetti L, Finklestein JL, Stabler SP, Brosnan ME, Brosnan JT, Priami C, Field MS Stover PJ. Maternal Vitamin B12 Deficiency Causes EAJCNxencephaly in a Mouse Model of Folate-Responsive Neural Tube Defects, AJCN
• Kelly CJ, Alexeev EE, Farb L, Vicery TW, Zheng L, Campbell EL, Kitzenberg DA, Battista D, Kominsky DJ, Frank DN, Stabler SP, Colgan SP. Oral Vitamin B12 Supplement is Delivered to the Distal Gut, Altering the Corrinoid Profile and Selectively Depleting Bacteroides in C57BL/6 Mice, Gut Microbes
• Jiang H, Phinney, W, Hurt KJ, Stabler SP Maclean K, Taurine Alleviates Repression of Betaine-homocysteine S-methyltransferase and Significantly Improves the Efficacy of Long-term Betaine Treatment in a Mouse Model of Cystathionine B-synthase Deficient Homocystinuria, Faseb J
• Stabler SP. Vitamin B12. Present Knowledge in Nutrition, International Life Sciences Institute, 9th ed.
• Maclean KN, Jiang H, Phinney WN, Keating AK, Hurt KJ, Stabler SP. Taurine alleviates repression of betaine-homocysteine S -methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine ß-synthase-deficient homocystinuria. FASEB J. 2019 May;33(5):6339-6353. PubMed PMID: 30768359
• Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis. 2019 May;42(3):424-437. PubMed PMID: 30873612
• Stabler S. Worldwide and Infantile vitamin B12 deficiency: Vitamins in the Prevention of Human Diseases. W Hermann, R Obeid (Eds), De Gruyter, Berlin, Germany.
• Kelly CJ, Alexeev EE, Farb L, Vickery TW, Zheng L, Eric L C, Kitzenberg DA, Battista KD, Kominsky DJ, Robertson CE, Frank DN, Stabler SP, Colgan SP. Oral vitamin B(12) supplement is delivered to the distal gut, altering the corrinoid profile and selectively depleting Bacteroides in C57BL/6 mice. Gut Microbes. 2019;10(6):654-662. PubMed PMID: 31062653
• Stabler, SP, Vitamin B12 in Present Knowledge in Nutrition: Basic Nutrition and Metabolism 11th Edition Elsevier. in press
• Bok R, Guerra DD, Lorca RA, Wennersten SA, Harris PS, Rauniyar AK, Stabler SP, MacLean KN, Roede JR, Brown LD, Hurt KJ. Cystathionine ?-lyase promotes estrogen-stimulated uterine artery blood flow via glutathione homeostasis. Redox Biol. 2020 Dec 8;40:101827. [Epub ahead of print] PubMed PMID: 33485059
• Maclean KN, Jiang H, Phinney WN, Mclagan BM, Roede JR, Stabler SP. Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis. Mol Genet Metab. 2021 Feb;132(2):128-138. PubMed PMID: 33483253
• Stabler SP. Diagnostic testing and assessment of folate status. The Nutritional Anemias, R Carmel (ed), Cambridge University Press, Cambridge, UK.
• Maruvada P, Stover PJ, Mason JB, Bailey RL, Davis CD, Field MS, Finnell RH, Garza C, Green R, Gueant JL, Jacques PF, Klurfeld DM, Lamers Y, MacFarlane AJ, Miller JW, Molloy AM, O'Connor DL, Pfeiffer CM, Potischman NA, Rodricks JV, Rosenberg IH, Ross SA, Shane B, Selhub J, Stabler SP, Trasler J, Yamini S, Zappalà G. Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshop. Am J Clin Nutr. 2020 Nov 11;112(5):1390-1403. PubMed PMID: 33022704
• Stabler SP. Alterations in Sulfur Amino Acids as Biomarkers of Disease. J Nutr. 2020 Oct 1;150(Suppl 1):2532S-2537S. PubMed PMID: 33000156
• Yetley EA, Pfeiffer CM, Phinney KW, Fazili Z, Lacher DA, Bailey RL, Blackmore S, Bock JL, Brody LC, Carmel R, Curtin LR, Durazo-Arvizu RA, Eckfeldt JH, Green R, Gregory JF 3rd, Hoofnagle AN, Jacobsen DW, Jacques PF, Molloy AM, Massaro J, Mills JL, Nexo E, Rader JI, Selhub J, Sempos C, Shane B, Stabler S, Stover P, Tamura T, Tedstone A, Thorpe SJ, Coates PM, Johnson CL, Picciano MF. Biomarkers of folate status in NHANES: a roundtable summary. Am J Clin Nutr 94: 303S-312S, 2011.
• Yetley EA, Pfeiffer CM, Phinney KW, Bailey RL, Blackmore S, Bock JL, Brody LC, Carmel R, Curtin LR, Durazo-Arvizu RA, Eckfeldt JH, Green R, Gregory JF 3rd, Hoofnagle AN, Jacobsen DW, Jacques PF, Lacher DA, Molloy AM, Massaro J, Mills JL, Nexo E, Rader JI, Selhub J, Sempos C, Shane B, Stabler S, Stover P, Tamura T, Tedstone A, Thorpe SJ, Coates PM, Johnson CL, Picciano MF. Biomarkers of vitamin B-12 status in NHANES: a roundtable summary. Am J Clin Nutr 94: 313S-321S, 2011.
• Benight NM, Stoll B, Chacko S, da Silva VR, Marini JC, Gregory JF 3rd, Stabler SP, Burrin DG. B-vitamin deficiency is protective against DSS-induced colitis in mice. Am J Physiol Gastrointest Liver Physiol 301: G249-G259, 2011.
• Kingsley MC, Xie HM, Chen BR, Riedel SS, Pastuer T, Bollig MK, Shank T, Libbrecht C, Stabler SP, Deshpande AJ, Intlekofer AM, Bernt KM. Specific patterns of H3K79 methylation influence genetic interaction of oncogenes in AML. Blood Adv. 2020 Jul 14;4(13):3109-3122. PubMed PMID: 32634241
• Lachenauer ER, Stabler SP, Field MS, Stover PJ. p53 Disruption Increases Uracil Accumulation in DNA of Murine Embryonic Fibroblasts and Leads to Folic Acid-Nonresponsive Neural Tube Defects in Mice. J Nutr. 2020 Jul 1;150(7):1705-1712. PubMed PMID: 32271909
• Porter AC, Gumina DL, Armstrong M, Maclean KN, Reisdorph N, Galan HL, Stabler SP, Bailey BA, Hobbins JC, Hurt KJ. Maternal Amino Acid Profiles to Distinguish Constitutionally Small versus Growth-Restricted Fetuses Defined by Doppler Ultrasound: A Pilot Study. Am J Perinatol. 2020 Sep;37(11):1084-1093. PubMed PMID: 32120425
• Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JL, Maclean KN. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab 103: 330-337, 2011.
• Stabler S, Koyama T, Zhao Z, Martinez-Ferrer M, Allen RH, Luka Z, Loukachevitch LV, Clark PE, Wagner C, Bhowmick NA. Serum methionine metabolites are risk factors for metastatic prostate cancer progression. PLoS ONE 6: e22486, 2011.
• Fiddler JL, Xiu Y, Blum JE, Lamarre SG, Phinney WN, Stabler SP, Brosnan ME, Brosnan JT, Thalacker-Mercer AE, Field MS. Reduced Shmt2 Expression Impairs Mitochondrial Folate Accumulation and Respiration, and Leads to Uracil Accumulation in Mouse Mitochondrial DNA. J Nutr. 2021 Oct 1;151(10):2882-2893. PubMed PMID: 34383924
• Bok R, Guerra DD, Lorca RA, Wennersten SA, Harris PS, Rauniyar AK, Stabler SP, MacLean KN, Roede JR, Brown LD, Hurt KJ. Cystathionine ?-lyase promotes estrogen-stimulated uterine artery blood flow via glutathione homeostasis. Redox Biol. 2021 Apr;40:101827. PubMed PMID: 33485059
• Medici V, Virata MC, Peerson JM, Stabler SP, French SW, Gregory 3rd JF, Albanese A, Bowlus CL, Devaraj S, Panacek EA, Richards JR, Halsted CH. S-adenosyl-L-methionine treatment for alcoholic liver disease: A double-blinded, randomized, placebo-controlled trial. Alcohol Clin Exp Res 35:1960-1965, 2011.
• Maclean KN, Jiang H, Phinney WN, Mclagan BM, Roede JR, Stabler SP. Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis. Mol Genet Metab. 2021 Feb;132(2):128-138. PubMed PMID: 33483253
• Stabler, SP Megaloblastic Anemias, Goldman-Cecil Medicine 27th Edition chapter 150
• Macfarlane AJ, Anderson DD, Flodby P, Perry CA, Allen RH, Stabler SP, Stover PJ. Nuclear localization of the de novo thymidylate biosynthesis pathway is required to prevent uracil accumulation in DNA. J Biol Chem 286: 44015-44022, 2011.
• Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ. Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. Mol Genet Metab 105: 228-236, 2012.
• Maclean KN, Jiang H, Greiner LS, Allen RH, Stabler SP. Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: Decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk. Mol Genet Metab 105: 395-403, 2012.
• Stabler, SP Megaloblastic Anemias: Disorders of Impaired DNA Synthesis, Wintrobe's Clinical Hematology , 15th Edition, chapter 37.
• Xiao S, Tang YS, Khan RA, Zhang Y, Kusumanchi P, Stabler SP, Jayaram HN, Antony AC. Influence of physiological folate deficiency on human papillomavirus type 16 (HPV16)-harboring human keratinocytes in vitro and in vivo. In Press, J Biol Chem, February 17, 2012.
• Beaudin AE, Perry CA, Stabler SP, Allen RH, Stover PJ. Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice. Am J Clin Nutr 95: 882-891, 2012.
• Yan J, Jiang X, West AA, Perry CA, Malysheva OV, Devapatla S, Pressman E, Vermeylen F, Stabler SP, Allen RH, Caudill MA. Maternal choline intake modulates maternal and fetal biomarkers of choline metabolism in humans. In Press, Am J Clin Nutr, 2012.
• Davey A, Dai T, Woodard JL, Miller LS, Gondo Y, Johnson MA, Hausman DB, Martin P, Allen RH, Stabler SP, Green RC, Poon LW for the Georgia Centenarian Study. Profiles of Cognitive Functioning in a Population-Based Sample of Centenarians Using Factor Mixture Analysis. In Press, Exp Aging Res, 2012.
• Stabler S, Megaloblastic and Nutritional Anemias in Nonmalignant Hematology: Expert Clinical Review: Questions and answers second edition, eds: Abutalib S, Connors JM and Ragni MV, Springer Nature Switzerland AG ,2022
• Stabler SP, Megaloblastic anemia: Disorders of Impaired DNA Synthesis, in Wintrobe's Clinical Hematology, 15th ed. Means, R et al., Wolters Kluwer Health, projected for Sept 2023
• Heyden KE, Fiddler JL, Xiu, Y, Malysheva OV, Handzlki M, Phinney WN, Stiles L, Stabler SP, Metallo CM, Caudill MA, Field MS, Reduced methionine synthae results in a functional vitamin B12 deficiency and uracil accumulation in mouse mitochondrial DNA, PNANSEXUS-2022-01284
• Stabler S, Korson M, Jethva R, Allen RH, Kraus JP, Spector EB, Wagner C, Mudd SH. Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family. In Press, J Inherit Metab Dis, 2012.
• Haslam A, Hausman DB, Johnson MA, Davey A, Poon LW, Allen RH, Stabler SP; for the Georgia Centenarian Study. Prevalence and Predictors of Anemia in a Population-Based Study of Octogenarians and Centenarians in Georgia. J Gerontol A Biol Sci Med Sci 67A: 100-106, 2012.
• Heyden KE, Fiddler JL, Xiu Y, Malysheva OV, Handzlik MK, Phinney WN, Stiles L, Stabler SP, Metallo CM, Caudill MA, Field MS. Reduced methionine synthase expression results in uracil accumulation in mitochondrial DNA and impaired oxidative capacity. PNAS Nexus. 2023 Apr;2(4):pgad105. PubMed PMID: 37077889
• Megaloblastic Anemias: Disorders of Impaired DNA Synthesis. In: Wintrobe's Clinical Hematology, 15th ed still under editing 2023
• Stabler SP. Megaloblastic Anemias. In: Goldman-Cecil Medicine 27th Ed. L Goldman, Al Schaefer (eds), Elsevier, Phila, PA 2023 update version
• Flores KG, Stidley CA, Mackey AJ, Picchi MA, Stabler SP, Siegfried JM, Byers T, Berwick M, Belinsky SA, Leng S. Sex-specific association of sequence variants in CBS and MTRR with risk for promoter hypermethylation in the lung epithelium of smokers. Carcinogenesis 33:1542-1547, 2012.
• Maclean KN, Greiner LS, Evans JR, Sood SK, Lhotak S, Markham NE, Stabler SP, Allen RH, Austin RC, Balasubramaniam V, Jiang H. Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death. J Biol Chem 287:31994-32005, 2012.
• Yi S, Seth EC, Men YJ, Stabler SP, Allen RH, Alvarez-Cohen L, Taga ME. Versatility in corrinoid salvaging and remodeling pathways supports corrinoid-dependent metabolism in Dehalococcoides mccartyi. Appl Environ Microbiol 78:7745-7752, 2012.
• Jiang H, Stabler SP, Allen RH, Maclean KN. Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. Mol Genet Metab 107:55-65, 2012.
• Davey A, Dai T, Woodard JL, Miller LS, Gondo Y, Johnson MA, Hausman DB, Martin P, Green RC, Allen RH, Stabler SP, Poon LW For The Georgia Centenarian Study. Profiles of Cognitive Functioning in a Population-Based Sample of Centenarians Using Factor Mixture Analysis. Exp Aging Res 39:125-144, 2013.
• Stabler SP. Clinical practice. Vitamin B12 deficiency. N Engl J Med 368:149-160, 2013.
• Delaney C, Garg SK, Fernandes C, Hoeltzel M, Allen RH, Stabler S, Yung R. Maternal Diet Supplemented with Methyl-Donors Protects against Atherosclerosis in F1 ApoE(-/-) Mice. PLoS One 8:e56253, 2013.
• Field MS, Shields KS, Abarinov EV, Malysheva OV, Allen RH, Stabler SP, Ash JA, Strupp BJ, Stover PJ, Caudill MA. Reduced MTHFD1 activity in male mice perturbs folate- and choline-dependent one-carbon metabolism as well as transsulfuration. J Nutr 143:41-45, 2013.

Professional Memberships

• American Federation for Clinical Research, Member
• Western Society for Clinical Investigation, Member
• American Society of Hematology, Member

Practice Locations

• University of Colorado Hospital

• University of Colorado Cancer Center
• Hemophilia and Thrombosis Center

Specialty Information

• Internal Medicine, Board Certification (1982)
• Medical Oncology, Board Certification (1983)
• Hematology, Board Certification (1984)
• Hemophilia, Other (0001)

• Blood / Lymphatic System - Bleeding Disorders
• Blood / Lymphatic System