Julie Saba, MD, PhD

Professor In Residence
M_PEDS-HEMATOLOGY
[email protected]

physician-scientist
(she/her/hers)

Sphingosine-1-phosphate (S1P) is a bioactive lipid that plays important roles in development, vascular biology, immune cell trafficking, carcinogenesis and other physiological processes. S1P mediates its actions primarily by signaling through a family of G protein-coupled receptors. Our research group is investigating the role of S1P metabolism and signaling in development and disease using cellular and animal models, translational approaches and metabolomics profiling. Our recent findings demonstrate that defects in S1P metabolism underlie a novel childhood syndrome called sphingosine phosphate lyase insufficiency syndrome (SPLIS), which is characterized by defects of kidney, adrenal gland, neurological system, skin and immune system. We are now developing several therapeutic approaches to the treatment of SPLIS including gene therapy and cofactor supplementation.

Publications

S100 Calcium Binding Protein A6.

Brian R. Dempsey, Anne C. Rintala-Dempsey, Gary S. Shaw, Igor Prudovsky, Thallapuranam Krishnaswamy Suresh Kumar, Rosario Donato, Rosario Donato, Guglielmo Sorci, Ileana Giambanco, Isadora Carolina Betim Pavan, Fernando Riback Silva, Ana Paula Morelli, Fernando Moreira Simabuco, Yuan Xiao Zhu, A. Keith Stewart, Jaime O. Claudio, Constance E. Runyan, H. William Schnaper, Sushant Singh, Sanjaya K. Sahoo, Muthu Periasamy, Erno Zádor, Magdolna Kósa, Chiung-Ya Chen, Yi-Ping Hsueh, Herman E. Popeijus, Alice Guyon, Laurence J. Miller, Sari S. Hannila, Manoj B. Menon, Akio Yamashita, Veerle Janssens, Ralf-Peter Czekay, Tessa M. Simone, Paul J. Higgins, David Della-Morte, Donatella Pastore, Barbara Capuani, Francesca Pacifici, Davide Lauro, Béatrice L. Charreau, Philip D. King, Matthew D. Blunt, Stephen G. Ward, Christophe Erneux, Stéphane Schurmans, Colin G. Rousseaux, Yasuyuki Saito, Yoji Murata, Takenori Kotani, Takashi Matozaki, Pedro Gomes, Xiaogang Chu, Ryan George, Raghavan Raju, Annegret Reinhold, Burkhart L. Schraven, Víctor Sorribas, Ali H. Jalloul, Robert T. Szerencsei, Tatiana P. Rogasevskaia, Paul P. M. Schnetkamp, Sylvia Y. M. Yao, James D. Young, Bruno Gasnier, Ian Forster, Andreas Werner, Laura R. de La Ballina, Tomás de Garay, Chloé C. Féral, Manuel Palacín, Meytal Landau, Mitsunori Fukuda, Jong Ran Lee, Salman Tamaddon-Jahromi, Venkateswarlu Kanamarlapudi, Julia Strebovsky, Jana Zimmer, Alexander H. Dalpke, Barbara Mariniello, Kaitlyn Ryan, Chin Chiang, Gianni Colotti, Andrea Ilari, Koji Shimozaki, Shiro Koizume, Yohei Miyagi, Aleksander Czogalla, Nadine Beckmann, Erich Gulbins, Katrin Anne Becker, Alexander Carpinteiro, Heidi Neubauer, Stuart Pitson, Ashok Kumar, Julie D. Saba, Samar Masoumi-Moghaddam, Afshin Amini, Sausan A. Moharram, Lars Rönnstrand, Julhash U. Kazi, Sausan A. Moharram, Lars Rönnstrand, Julhash U. Kazi, David A. Jans, Gurpreet Kaur, Cecilia Poderoso, Ana F. Castillo, Pablo G. Mele, Paula M. Maloberti, Ernesto J. Podestá, Su Jun Lim, Willis X. Li, Benjamin Skalkoyannis, Venkateswarlu Kanamarlapudi, Marc J. Tetel, Pui Man Rosalind Lai, Pradeep Kurup, Jian Xu, Manavi Chatterjee, Susan Goebel-Goody, Surojit Paul, Paul Lombroso, Wesley H. Brooks, Sreya Mukherjee, Malgorzata Kloc, Jacek Z. Kubiak, Pia Ragno, Jie Zhang, Zhi-wei Ye, Robert R. Bowers, Danyelle M. Townsend, Kenneth D. Tew, Mikko O. Laukkanen, Alessia Parascandolo, Niharika Swain, Rashmi Maruti Hosalkar, Payel Sen, Nilanjana Chatterjee, Blaine Bartholomew, Robert L. Geahlen, Ashley Bernardo, Shreya Prashar, Luke Molinaro, Ram Mishra, Sang-Ho Song, George J. Augustine, Niharika Swain, Rashmi Maruti Hosalkar, Samapika Routray, Valérie Drouet, Suzanne Lesage, Alexis Brice, Arie Horowitz

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

The Journal of clinical investigation

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F

S100 Calcium-Binding Protein.

Brian R. Dempsey, Anne C. Rintala-Dempsey, Gary S. Shaw, Yuan Xiao Zhu, A. Keith Stewart, Jaime O. Claudio, Constance E. Runyan, H. William Schnaper, Philip D. King, Matthew D. Blunt, Stephen G. Ward, Annegret Reinhold, Burkhart L. Schraven, Mitsunori Fukuda, Jong Ran Lee, Julia Strebovsky, Alexander H. Dalpke, Barbara Mariniello, Kaitlyn Ryan, Chin Chiang, Ashok Kumar, Julie D. Saba, David A. Jans, Gurpreet Kaur, Marc J. Tetel, Pui Man Rosalind Lai, Pradeep Kurup, Jian Xu, Susan Goebel-Goody, Surojit Paul, Paul Lombroso, Pia Ragno, Robert R. Bowers, Danyelle M. Townsend, Kenneth D. Tew, Payel Sen, Nilanjana Chatterjee, Blaine Bartholomew, Arie Horowitz

Sphingosine-1-Phosphate.

Encyclopedia of Signaling Molecules

Brian R. Dempsey, Anne C. Rintala-Dempsey, Gary S. Shaw, Yuan Xiao Zhu, A. Keith Stewart, Jaime O. Claudio, Constance E. Runyan, H. William Schnaper, Philip D. King, Matthew D. Blunt, Stephen G. Ward, Annegret Reinhold, Burkhart L. Schraven, Mitsunori Fukuda, Jong Ran Lee, Julia Strebovsky, Alexander H. Dalpke, Barbara Mariniello, Kaitlyn Ryan, Chin Chiang, Ashok Kumar, Julie D. Saba, David A. Jans, Gurpreet Kaur, Marc J. Tetel, Pui Man Rosalind Lai, Pradeep Kurup, Jian Xu, Susan Goebel-Goody, Surojit Paul, Paul Lombroso, Pia Ragno, Robert R. Bowers, Danyelle M. Townsend, Kenneth D. Tew, Payel Sen, Nilanjana Chatterjee, Blaine Bartholomew, Arie Horowitz