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.

Vassilopoulos A, Chisholm C, Lahusen T, Zheng H, Deng CX. A critical role of CD29 and CD49f in mediating metastasis for cancer-initiating cells isolated from a Brca1-associated mouse model of breast cancer. . [Full Text/Abstract]
Wang RH, Xu X, Kim HS, Xiao Z, Deng CX. SIRT1 deacetylates FOXA2 and is critical for Pdx1 transcription and β-cell formation.Int J Biol Sci. ; 9 (9) :934-46. [Full Text/Abstract]
Jeong SM, Xiao C, Finley LW, Lahusen T, Souza AL, Pierce K, Li YH, Wang X, Laurent G, German NJ, Xu X, Li C, Wang RH, Lee J, Csibi A, Cerione R, Blenis J, Clish CB, Kimmelman A, Deng CX, Haigis MC. SIRT4 has tumor-suppressive activity and regulates the cellular metabolic response to DNA damage by inhibiting mitochondrial glutamine metabolism.Cancer Cell. ; 23 (23; 4) :450-63. [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]
Xiao C, Wang RH, Lahusen TJ, Park O, Bertola A, Maruyama T, Reynolds D, Chen Q, Xu X, Young HA, Chen WJ, Gao B, Deng CX. Progression of chronic liver inflammation and fibrosis driven by activation of c-JUN signaling in Sirt6 mutant mice.J Biol Chem. ; 287 (50; 287) :41903-13. [Full Text/Abstract]
Lee MH, Lahusen T, Wang RH, Xiao C, Xu X, Hwang YS, He WW, Shi Y, Deng CX. Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation.Oncogene. ; 31 (1; 31) :116-27. [Full Text/Abstract]
Wang RH, Kim HS, Xiao C, Xu X, Gavrilova O, Deng CX. Hepatic Sirt1 deficiency in mice impairs mTorc2/Akt signaling and results in hyperglycemia, oxidative damage, and insulin resistance.J Clin Invest. ; 121 (121; 11) :4477-90. [Full Text/Abstract]
Teng R, Gavrilova O, Suzuki N, Chanturiya T, Schimel D, Hugendubler L, Mammen S, Yver DR, Cushman SW, Mueller E, Yamamoto M, Hsu LL, Noguchi CT. Disrupted erythropoietin signalling promotes obesity and alters hypothalamus proopiomelanocortin production.Nat Commun. 2011 Nov 1; 2 (2; 2011 Nov 1) :520. [Full Text/Abstract]
Kim HS, Vassilopoulos A, Wang RH, Lahusen T, Xiao Z, Xu X, Li C, Veenstra TD, Li B, Yu H, Ji J, Wang XW, Park SH, Cha YI, Gius D, Deng CX. SIRT2 maintains genome integrity and suppresses tumorigenesis through regulating APC/C activity.Cancer Cell. ; 20 (20; 4) :487-99. [Full Text/Abstract]
Meruvu S, Hugendubler L, Mueller E. Regulation of adipocyte differentiation by the zinc finger protein ZNF638.J. Biol. Chem. 2011 Jul 29; 286 (30; 2011 Jul 29; 286) :26516-23. [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]
Bagattin A, Hugendubler L, Mueller E. Transcriptional coactivator PGC-1alpha promotes peroxisomal remodeling and biogenesis.Proc. Natl. Acad. Sci. U.S.A. 2010 Nov 23; 107 (107; 2010 Nov 23; 47) :20376-81. [Full Text/Abstract]
Shukla V, Coumoul X, Lahusen T, Wang RH, Xu X, Vassilopoulos A, Xiao C, Lee MH, Man YG, Ouchi M, Ouchi T, Deng CX. BRCA1 affects global DNA methylation through regulation of DNMT1.Cell Res. ; 20 (20; 11) :1201-15. [Full Text/Abstract]
Kim HS, Xiao C, Wang RH, Lahusen T, Xu X, Vassilopoulos A, Vazquez-Ortiz G, Jeong WI, Park O, Ki SH, Gao B, Deng CX. Hepatic-specific disruption of SIRT6 in mice results in fatty liver formation due to enhanced glycolysis and triglyceride synthesis.Cell Metab. ; 12 (12; 3) :224-36. [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]
Xu X, Ehdaie B, Ohara N, Yoshino T, Deng CX. Synergistic action of Smad4 and Pten in suppressing pancreatic ductal adenocarcinoma formation in mice.Oncogene. ; 29 (5; 29) :674-86. [Full Text/Abstract]
Di Pietro N, Panel V, Hayes S, Bagattin A, Meruvu S, Pandolfi A, Hugendubler L, Fejes-Tóth G, Naray-Fejes-Tóth A, Mueller E. Serum- and glucocorticoid-inducible kinase 1 (SGK1) regulates adipocyte differentiation via forkhead box O1.Mol. Endocrinol. 2010 Feb; 24 (2; 2010 Feb; 24) :370-80. [Full Text/Abstract]
Kim HS, Patel K, Muldoon-Jacobs K, Bisht KS, Aykin-Burns N, Pennington JD, van der Meer R, Nguyen P, Savage J, Owens KM, Vassilopoulos A, Ozden O, Park SH, Singh KK, Abdulkadir SA, Spitz DR, Deng CX, Gius D. SIRT3 is a mitochondria-localized tumor suppressor required for maintenance of mitochondrial integrity and metabolism during stress.Cancer Cell. ; 17 (17; 1) :41-52. [Full Text/Abstract]
Skarulis MC, Celi FS, Mueller E, Zemskova M, Malek R, Hugendubler L, Cochran C, Solomon J, Chen C, Gorden P. Thyroid hormone induced brown adipose tissue and amelioration of diabetes in a patient with extreme insulin resistance.J. Clin. Endocrinol. Metab. 2010 Jan; 95 (95; 2010 Jan; 1) :256-62. [Full Text/Abstract]
Kim SS, Cao L, Baek HJ, Lim SC, Li C, Wang RH, Xu X, Cho KH, Deng CX. Impaired skin and mammary gland development and increased gamma-irradiation-induced tumorigenesis in mice carrying a mutation of S1152-ATM phosphorylation site in Brca1.Cancer Res. ; 69 (69; 24) :9291-300. [Full Text/Abstract]
Cao L, Xu X, Bunting SF, Liu J, Wang RH, Cao LL, Wu JJ, Peng TN, Chen J, Nussenzweig A, Deng CX, Finkel T. A selective requirement for 53BP1 in the biological response to genomic instability induced by Brca1 deficiency.Mol Cell. ; 35 (35; 4) :534-41. [Full Text/Abstract]
Finkel T, Deng CX, Mostoslavsky R. Recent progress in the biology and physiology of sirtuins.Nature. ; 460 (460; 7255) :587-91. [Full Text/Abstract]
Leslie DS, Dascher CC, Cembrola K, Townes MA, Hava DL, Hugendubler LC, Mueller E, Fox L, Roura-Mir C, Moody DB, Vincent MS, Gumperz JE, Illarionov PA, Besra GS, Reynolds CG, Brenner MB. Serum lipids regulate dendritic cell CD1 expression and function.Immunology. 2008 Nov; 125 (3; 2008 Nov; 125) :289-301. [Full Text/Abstract]
Wang RH, Zheng Y, Kim HS, Xu X, Cao L, Luhasen T, Lee MH, Xiao C, Vassilopoulos A, Chen W, Gardner K, Man YG, Hung MC, Finkel T, Deng CX. Interplay among BRCA1, SIRT1, and Survivin during BRCA1-associated tumorigenesis.Mol Cell. ; 32 (32; 1) :11-20. [Full Text/Abstract]
Wang RH, Sengupta K, Li C, Kim HS, Cao L, Xiao C, Kim S, Xu X, Zheng Y, Chilton B, Jia R, Zheng ZM, Appella E, Wang XW, Ried T, Deng CX. Impaired DNA damage response, genome instability, and tumorigenesis in SIRT1 mutant mice.Cancer Cell. ; 14 (14; 4) :312-23. [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]