Selected Publications

  • Gharagozlou S, Wright NAM, Murguila-Favela L, Eshleman J, Midgley J, Saygili S, Mathew G, Lesmana H, Makkoukdji N, Gans M, Saba JD. Sphingosine Phosphate Lyase Insufficiency Syndrome: A Focus on Primary Immunodeficiency. Advances in Biological Regulation. 2024 Oct 22:94:101058. PMID: 39454238
  • Oskouian B, Lee JY, Asgharzadeh S, Khan R, Zhang M, Weisbrod JR , Choi Y , Puri L , Aguilar AE, Zhao P and Saba JD. AF1q is a universal marker of neuroblastoma that sustainsN-Myc expression and drives tumorigenesis. Oncogene. 2024 Apr;43(16):1203-1213. PMID: 38413795
  • Keller N, Midgley J, Khalid E et al. Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome: A Retrospective Cross-sectional Study of 76 Patients. Orphanet J Rare Dis. 2024. In press.
  • Bhattacharyya A, Khan R, Lee J, Tassew G, Oskouian B, Allende ML, Proia RL, Yin X, Ortega JG, Bhattacharya M and Saba JD. Gene therapy with AAV9-SGPL1 in an animal model of lung fibrosis. J Pathol. 2024 Feb 9. doi: 10.1002/path.6256. PMID: 38332723 
  • Sedillo JC, Badduke C, Schrodi SJ, Scaria V, Onat OE, Alfadhel M, Ober C, Wentworth-Shields W, Steiner RD and Saba JD. Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations. Genetics in Medicine Open (2024) 2, 100840. DOI: 10.1016/j.gimo.2023.100840
  • Zhao P, Tassew GB, Lee JY, Oskouian B, Muñoz DP, Hodgin JB, Watson G, Tang F, Wang JY, Luo J, Yang Y, King SM, Krauss R, Saba JD. Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome. J Clin Invest Insight, 2021;6(8):e145936. PMCID: PMC8119223
  • KW Martin, N Weaver, K Alhasan, E Gumus, M Zenker, F Hildebrandt, JD Saba. MRI spectrum of brain involvement in sphingosine-1-phosphate lyase insufficiency syndrome. American Journal of Neuroradiology 2020 Oct;41(10):1943-1948. PMCID: PMC7661081
  • Zhao P, Liu ID, Hodgin JB et al. Responsiveness of sphingosine phosphate lyase insufficiency syndrome (SPLIS) to vitamin B6 cofactor supplementation. J Inherited Met Dis. 2020. Mar 31. doi: 10.1002/jimd.12238. PMCID: PMC8072405
  • Saba JD. Fifty years of lyase and a moment of truth: Sphingosine phosphate lyase from discovery to disease. J Lipid Res. 2019 Jan 11. pii: jlr.S091181. doi: 10.1194/jlr.S091181. PMCID: PMC6399507
  • Suh JH, Degagne E, Gleghorn E, Setty M, Rodriguez A, Park KT, Verstraete, SG, Heyman MB, Patel AS, Irek M, Gildengorin GL, Hubbard NE, Borowsky AD, Saba JD. Sphingosine-1-phosphate signaling and metabolism gene signature in pediatric inflammatory bowel disease: a matched-case control pilot study. Inflammatory Bowel Disease 2018 May 18;24(6):1321-1334. PMCID: PMC5986285
  • Lovric S, Goncalves S, Gee HY et al. SGPL1 mutations cause nephrosis with acanthosis and adrenal insufficiency. J Clin Invest 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. PMCID: PMC5330730
  • Mitroi DN, Karunakaran I, Graler M, Saba JD, Ledesma MD, van Echten-Deckert G. Sphingosine 1-phosphate lyase modulates neuronal autophagy via phosphatidylethanolamine production. Autophagy. 2017 May 4;13(5):885-899.
  • Zamora-Pineda J, Kumar A, Suh JH, Zhang M, Saba JD. Dendritic cell sphingosine-1-phosphate lyase regulates thymic egress. J Exp Med. 2016 Oct 17.
  • Suh JH, Eltanawy A, Rangan A and Saba JD. A facile stable-isotope dilution method for determination of sphingosine phosphate lyase activity. Chemistry and Physics of Lipids, Jan;194:101-9, 2016.
  • Degagné E, Bandhuvula P, Kumar A, Pandurangan A, Eltanawy A, Zhang M, Ahmedi Y, Yoshinaga Y, Nefedov M, de Young P, Fong LG, Young SG, Saba JD. Sphingosine-1-phosphate lyase downregulation promotes colon carcinogenesis through STAT3-activated miRNAs. J Clin Invest. 24(12):5368-538, 2014.
  • de la Garza-Rodea AS, Baldwin D, Oskouian B, Place R, Bandhuvula P, Kumar A, Saba JD. S1P lyase regulates myogenic differentiation via S1PR-mediated effects on myogenic microRNA expression. FASEB J. 28(1):506-19, 2014. PMCID: PMC3868843
  • Kumar A, Pandurangan A, Lu F, Fyrst H, Zhang M, Byun HS, Bittman R, Saba JD. Chemopreventive sphingadienes downregulate Wnt signaling in human colon cancer cells and intestinal tissues of ApcMin/+ mice. Carcinogenesis. 33:1726-35, 2012. PMCID: PMC3514901
  • Loh KC, Leong WI, Carlson ME, Oskouian B, Kumar A, Fyrst H, Zhang M, Proia RL, Hoffman EP, Saba JD. Sphingosine-1-phosphate enhances satellite cell activation in dystrophic muscle through an S1PR2/ STAT3 signaling pathway. PLoS One. 7: e37218, 2012. PMCID: PMC3351440
  • Kumar A, Oskouian B, Fyrst H, Zhang M, Paris F, Saba JD. S1P lyase regulates DNA damage responses through a novel sphingolipid feedback mechanism. Cell Death & Disease 2:e119, 2011. PMCID: PMC3101703
  • Bektas M, Allende ML, Lee B, Chen WP, Amar M, Remaley AT, Saba JD, Proia RL. S1P lyase deficiency disrupts lipid homeostasis in liver. J Biol Chem 285:10880-10889, 2010. PMCID: PMC2856294
  • Fyrst H, Oskouian B, Bandhuvula P, Gong Y, Byun HS, Bittman R, Lee AR, Saba JD. Sphingadienes inhibit Akt-dependent signaling and prevent intestinal tumorigenesis. Cancer Res 69:9457- 9464, 2009. PMCID: PMC2795098
  • Oskouian B, Sooriyakumaran P, Borowsky AD, Crans A, Dillard-Telm L, Tam YY, Bandhuvula P, Saba JD. Sphingosine-1-phosphate lyase potentiates apoptosis via p53- and p38-dependent pathways and is downregulated in colon cancer. Proc Natl Acad Sci USA 103: 17384-9, 2006.
  • Kohno M, Momoi M, Oo ML, Paik JH, Lee YM, Venkataraman K, Ai Y, Ristimaki AP, Fyrst H, Sano H, Rosenberg D, Saba JD, Proia RL, Hla T. Intracellular role for sphingosine kinase 1 in intestinal adenoma cell proliferation. Mol Cell Biol 26:7211-23, 2006.
  • Bandhuvula P, Tam Y, Oskouian B, Saba JD. The immune modulator FTY720 inhibits sphingosine- 1-phosphate lyase activity. J Biol Chem 280:33697-700, 2005.
  • Oskouian B, Mendel J, Shocron E, Lee MA Jr, Fyrst H, Saba JD. Regulation of sphingosine-1- phosphate lyase gene expression by members of the GATA family of transcription factors. J Biol Chem 280:18403-10, 2005.
  • Reiss U, Oskouian B, Zhou J, Gupta V, Kelly S, Wang E, Sooriyakumaran P, Merrill AH Jr, Saba JD. Sphingosine phosphate lyase enhances stress-induced ceramide generation and apoptosis. J Biol Chem. 279:1281-90, 2004.
  • Herr DR, Fyrst H, Creason M, Phan V, Saba JD, Harris GL. Characterization of the Drosophila sphingosine kinases and requirement for Sk2 in normal reproductive function, J Biol Chem 279:12685-94, 2004.
  • Mendel J, Heinecke K, Fyrst H, Saba JD. Sphingosine phosphate lyase expression is essential for normal development in Caenorhabditis elegans, J Biol Chem 278:22341-9, 2003.
  • Herr DR, Fyrst H, Phan V, Heinecke K, Georges R, Harris GL, Saba JD. Sply regulation of sphingolipid signaling molecules is essential for Drosophila development. Development 11:2443-53, 2003.
  • Zhou JH, Saba JD. Identification of the first mammalian sphingosine phosphate lyase gene and its functional expression in yeast. Biochem Biophys Res Commun 242:502-507, 1998.
  • Saba JD, Garrett SD, Bielawska A, Nara F, Hannun YA. The BST1 gene of Saccharomyces cerevisiae is the sphingosine-1-phosphate lyase. J Biol Chem 272, No. 42:26087-91, 1997.