U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief


A selection of recent and significant publications can be viewed below.

Xu L, Ma X, Verma NK, Wang D, Gavrilova O, Proia RL, Finkel T, Mueller E. Ablation of PPARγ in subcutaneous fat exacerbates age-associated obesity and metabolic decline. Aging Cell. 2018 Jan 31; 17 (2; 17; 2018 Jan 31). [Full Text/Abstract]
Allende ML, Cook EK, Larman BC, Nugent A, Brady JM, Golebiowski D, Sena-Esteves M, Tifft CJ, Proia RL. Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. J Lipid Res. 2018 Jan 22; 59 (59; 2018 Jan 22; 3):550-563. [Full Text/Abstract]
Kono M, Conlon EG, Lux SY, Yanagida K, Hla T, Proia RL. Bioluminescence imaging of G protein-coupled receptor activation in living mice. Nat Commun. 2017 Oct 27; 8 (8; 2017 Oct 27; 1):1163. [Full Text/Abstract]
Nugent A, Proia RL. The role of G protein-coupled receptors in lymphoid malignancies. Cell Signal. 2017 Aug 9; 39 (2017 Aug 9; 39):95-107. [Full Text/Abstract]
de Vasconcellos JF, Tumburu L, Byrnes C, Lee YT, Xu PC, Li M, Rabel A, Clarke BA, Guydosh NR, Proia RL, Miller JL. IGF2BP1 overexpression causes fetal-like hemoglobin expression patterns in cultured human adult erythroblasts. Proc Natl Acad Sci U S A. 2017 Jun 26; 114 (2017 Jun 26; 28; 114):E5664-E5672. [Full Text/Abstract]
Alexaki A, Clarke BA, Gavrilova O, Ma Y, Zhu H, Ma X, Xu L, Tuymetova G, Larman BC, Allende ML, Dunn TM, Proia RL. De Novo Sphingolipid Biosynthesis Is Required for Adipocyte Survival and Metabolic Homeostasis. J Biol Chem. 2017 Jan 18; 292 (292; 2017 Jan 18; 9):3929-3939. [Full Text/Abstract]
Spiegel S, Proia RL. In Memoriam: Roscoe Owen Brady (1923-2016). J Lipid Res. 2016 Aug 17; (2016 Aug 17). [Full Text/Abstract]
CHARGE Consortium Hematology Working Group. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nat Genet. 2016 Jul 11; 48 (48; 8; 2016 Jul 11):867-76. [Full Text/Abstract]
Xiong Y, Lee HJ, Mariko B, Lu YC, Dannenberg AJ, Haka AS, Maxfield FR, Camerer E, Proia RL, Hla T. Sphingosine kinases are not required for inflammatory responses in macrophages. J Biol Chem. 2016 May 20; 291 (291; 2016 May 20; 21):11465. [Full Text/Abstract]
Taguchi Y, Allende ML, Mizukami H, Cook EK, Gavrilova O, Tuymetova G, Clarke BA, Chen W, Olivera A, Proia RL. Sphingosine-1-phosphate Phosphatase 2 Regulates Pancreatic Islet β-Cell Endoplasmic Reticulum Stress and Proliferation. J Biol Chem. 2016 Apr 8; 291 (291; 2016 Apr 8; 23):12029-38. [Full Text/Abstract]
Galvani S, Sanson M, Blaho VA, Swendeman SL, Obinata H, Conger H, Dahlbäck B, Kono M, Proia RL, Smith JD, Hla T. HDL-bound sphingosine 1-phosphate acts as a biased agonist for the endothelial cell receptor S1P1 to limit vascular inflammation. Sci Signal. 2015 Aug 11; 8 (389; 8; 2015 Aug 11):ra79. [Full Text/Abstract]
Blaho VA, Galvani S, Engelbrecht E, Liu C, Swendeman SL, Kono M, Proia RL, Steinman L, Han MH, Hla T. HDL-bound sphingosine-1-phosphate restrains lymphopoiesis and neuroinflammation. Nature. 2015 Jun 8; 523 (7560; 523; 2015 Jun 8):342-6. [Full Text/Abstract]
Proia RL, Hla T. Emerging biology of sphingosine-1-phosphate: its role in pathogenesis and therapy. J Clin Invest. 2015 Apr 1; 125 (2015 Apr 1; 4; 125):1379-87. [Full Text/Abstract]
Gupta SD, Gable K, Alexaki A, Chandris P, Proia RL, Dunn TM, Harmon JM. Expression of the ORMDLS, Modulators of Serine Palmitoyltransferase, Is Regulated by Sphingolipids in Mammalian Cells. J Biol Chem. 2014 Nov 13; 290 (2014 Nov 13; 1; 290):90-98. [Full Text/Abstract]
Allende ML, Proia RL. Simplifying complexity: genetically resculpting glycosphingolipid synthesis pathways in mice to reveal function. Glycoconj J. 2014 Oct 29; 31 (9; 31; 2014 Oct 29):613-22. [Full Text/Abstract]
Alexaki A, Gupta SD, Majumder S, Kono M, Tuymetova G, Harmon JM, Dunn TM, Proia RL. Autophagy regulates sphingolipid levels in the liver. J Lipid Res. 2014 Oct 20; 55 (2014 Oct 20; 12; 55):2521-31. [Full Text/Abstract]
Xiong Y, Yang P, Proia RL, Hla T. Erythrocyte-derived sphingosine 1-phosphate is essential for vascular development. J Clin Invest. 2014 Sep 24; 124 (124; 2014 Sep 24; 11):4823-8. [Full Text/Abstract]
Novgorodov SA, Riley CL, Yu J, Borg KT, Hannun YA, Proia RL, Kindy MS, Gudz TI. Essential roles of neutral ceramidase and sphingosine in mitochondrial dysfunction due to traumatic brain injury. J Biol Chem. 2014 May 9; 289 (2014 May 9; 19; 289):13142-54. [Full Text/Abstract]
Giannouli CC, Chandris P, Proia RL. Visualizing S1P-directed cellular egress by intravital imaging. Biochim Biophys Acta. 2014 May; 1841 (1841; 2014 May; 5):738-744. [Full Text/Abstract]
Kono M, Tucker AE, Tran J, Bergner JB, Turner EM, Proia RL. Sphingosine-1-phosphate receptor 1 reporter mice reveal receptor activation sites in vivo. J Clin Invest. 2014 May 1; 124 (124; 2014 May 1; 5):2076-86. [Full Text/Abstract]
Allende ML, Sipe LM, Tuymetova G, Wilson-Henjum KL, Chen W, Proia RL. Sphingosine-1-phosphate Phosphatase 1 Regulates Keratinocyte Differentiation and Epidermal Homeostasis. J Biol Chem. 2013 Jun 21; 288 (25; 2013 Jun 21; 288):18381-91. [Full Text/Abstract]
Olivera A, Allende ML, Proia RL. Shaping the landscape: metabolic regulation of S1P gradients. Biochim Biophys Acta. 2013 Jan; 1831 (1831; 1; 2013 Jan):193-202. [Full Text/Abstract]
Allende ML, Bektas M, Lee BG, Bonifacino E, Kang J, Tuymetova G, Chen W, Saba JD, Proia RL. Sphingosine-1-phosphate lyase deficiency produces a pro-inflammatory response while impairing neutrophil trafficking. J Biol Chem. 2011 Mar 4; 286 (9; 286; 2011 Mar 4):7348-58. [Full Text/Abstract]
Allende ML, Tuymetova G, Lee BG, Bonifacino E, Wu YP, Proia RL. S1P1 receptor directs the release of immature B cells from bone marrow into blood. J Exp Med. 2010 May 10; 207 (207; 5; 2010 May 10):1113-24. [Full Text/Abstract]
Olivera A, Eisner C, Kitamura Y, Dillahunt S, Allende L, Tuymetova G, Watford W, Meylan F, Diesner SC, Li L, Schnermann J, Proia RL, Rivera J. Sphingosine kinase 1 and sphingosine-1-phosphate receptor 2 are vital to recovery from anaphylactic shock in mice. J Clin Invest. 2010 May; 120 (120; 2010 May; 5):1429-40. [Full Text/Abstract]
Bektas M, Allende ML, Lee BG, Chen W, Amar MJ, Remaley AT, Saba JD, Proia RL. Sphingosine 1-phosphate lyase deficiency disrupts lipid homeostasis in liver. J Biol Chem. 2010 Apr 2; 285 (2010 Apr 2; 14; 285):10880-9. [Full Text/Abstract]
Rivera J, Proia RL, Olivera A. The alliance of sphingosine-1-phosphate and its receptors in immunity. Nat Rev Immunol. 2008 Oct; 8 (8; 2008 Oct; 10):753-63. [Full Text/Abstract]
Wu YP, Mizugishi K, Bektas M, Sandhoff R, Proia RL. Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease. Hum Mol Genet. 2008 Aug 1; 17 (2008 Aug 1; 17; 15):2257-64. [Full Text/Abstract]
Mizugishi K, Li C, Olivera A, Bielawski J, Bielawska A, Deng CX, Proia RL. Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice. J Clin Invest. 2007 Oct; 117 (2007 Oct; 117; 10):2993-3006. [Full Text/Abstract]
Kono M, Belyantseva IA, Skoura A, Frolenkov GI, Starost MF, Dreier JL, Lidington D, Bolz SS, Friedman TB, Hla T, Proia RL. Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem. 2007 Apr 6; 282 (14; 282; 2007 Apr 6):10690-6. [Full Text/Abstract]
Kono M, Dreier JL, Ellis JM, Allende ML, Kalkofen DN, Sanders KM, Bielawski J, Bielawska A, Hannun YA, Proia RL. Neutral ceramidase encoded by the Asah2 gene is essential for the intestinal degradation of sphingolipids. J Biol Chem. 2006 Mar 17; 281 (281; 2006 Mar 17; 11):7324-31. [Full Text/Abstract]
Mizugishi K, Yamashita T, Olivera A, Miller GF, Spiegel S, Proia RL. Essential role for sphingosine kinases in neural and vascular development. Mol Cell Biol. 2005 Dec; 25 (25; 2005 Dec; 24):11113-21. [Full Text/Abstract]
Yamashita T, Allende ML, Kalkofen DN, Werth N, Sandhoff K, Proia RL. Conditional LoxP-flanked glucosylceramide synthase allele controlling glycosphingolipid synthesis. Genesis. 2005 Dec; 43 (43; 2005 Dec; 4):175-80. [Full Text/Abstract]
Yamashita T, Wu YP, Sandhoff R, Werth N, Mizukami H, Ellis JM, Dupree JL, Geyer R, Sandhoff K, Proia RL. Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions. Proc Natl Acad Sci U S A. 2005 Feb 22; 102 (8; 102; 2005 Feb 22):2725-30. [Full Text/Abstract]
Kono M, Mi Y, Liu Y, Sasaki T, Allende ML, Wu YP, Yamashita T, Proia RL. The sphingosine-1-phosphate receptors S1P1, S1P2, and S1P3 function coordinately during embryonic angiogenesis. J Biol Chem. 2004 Jul 9; 279 (28; 2004 Jul 9; 279):29367-73. [Full Text/Abstract]
Wu YP, Proia RL. Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci U S A. 2004 Jun 1; 101 (101; 2004 Jun 1; 22):8425-30. [Full Text/Abstract]
Allende ML, Dreier JL, Mandala S, Proia RL. Expression of the sphingosine 1-phosphate receptor, S1P1, on T-cells controls thymic emigration. J Biol Chem. 2004 Apr 9; 279 (2004 Apr 9; 15; 279):15396-401. [Full Text/Abstract]
Matloubian M, Lo CG, Cinamon G, Lesneski MJ, Xu Y, Brinkmann V, Allende ML, Proia RL, Cyster JG. Lymphocyte egress from thymus and peripheral lymphoid organs is dependent on S1P receptor 1. Nature. 2004 Jan 22; 427 (6972; 2004 Jan 22; 427):355-60. [Full Text/Abstract]
Allende ML, Yamashita T, Proia RL. G-protein-coupled receptor S1P1 acts within endothelial cells to regulate vascular maturation. Blood. 2003 Nov 15; 102 (102; 2003 Nov 15; 10):3665-7. [Full Text/Abstract]
Yamashita T, Hashiramoto A, Haluzik M, Mizukami H, Beck S, Norton A, Kono M, Tsuji S, Daniotti JL, Werth N, Sandhoff R, Sandhoff K, Proia RL. Enhanced insulin sensitivity in mice lacking ganglioside GM3. Proc Natl Acad Sci U S A. 2003 Mar 18; 100 (100; 6; 2003 Mar 18):3445-9. [Full Text/Abstract]
Mizukami H, Mi Y, Wada R, Kono M, Yamashita T, Liu Y, Werth N, Sandhoff R, Sandhoff K, Proia RL. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J Clin Invest. 2002 May; 109 (2002 May; 109; 9):1215-21. [Full Text/Abstract]