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Bio
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.
Interests
sphingolipids, pediatric cancer, nephrotic syndrome, sphingosine-1-phosphate signaling and metabolism, inflammatory bowel disease, colon cancer, inborn errors of metabolism, sphingosine phosphate lyase insufficiency syndrome
Research Interests
Papers共 181 篇Author StatisticsCo-AuthorSimilar Experts
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Yadi Tang, Mariola Majewska, Britta Leß,Ilir Mehmeti,Philipp Wollnitzke, Nina Semleit,Bodo Levkau,Julie D. Saba,Gerhild van Echten-Deckert,Ewa Gurgul-Convey
Joni C. Sedillo, Chansonette Badduke,Steven J. Schrodi,Vinod Scaria, Onur Emre Onat,Majid Alfadhel,Carole Ober,William Wentworth-Sheilds,Robert D. Steiner,Julie D. Saba
Genetics in Medicine Open (2024): 100840
Babak Oskouian,Joanna Y. Lee,Shahab Asgharzadeh,Ranjha Khan,Meng Zhang, Julia R. Weisbrod, Youn-Jeong Choi,Latika Puri, Ana E. Aguilar,Piming Zhao,Julie D. Saba
Oncogeneno. 16 (2024): 1-11
The Journal of pathologyno. 1 (2024): 22-31
Scientific reportsno. 1 (2023): 22692-22692
C. Costantini, G. Pampalone,M. Pariano,T. Zelante,L. Macchioni,R. Galarini,E. Camaioni, F. Paoletti, F. Catalano, M. Davidescu,C. Stincardini,M. Bellet,
Journal of Cystic Fibrosis (2023): S78-S79
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