Email: rsteet@ggc.org<\/p>\n
Biosketch![\"richard](\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\")
<\/strong><\/h2>\nA native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. Louis, he began his independent research career at the Complex Carbohydrate Research Center on the University of Georgia campus in 2006.\u00a0 During this time, Dr. Steet expanded his research interests into the chemical glycobiology arena, helping to develop methods for the profiling of the cell surface glycoproteins.\u00a0 He was promoted to the rank of Associate Professor with tenure in 2012 and Full Professor in 2018.\u00a0 Dr. Steet moved his laboratory to the Greenwood Genetic Center in 2018 where he currently serves as the Director of Research and the Head of the JC Self Research Institute.\u00a0 He holds adjunct professor positions at both Clemson University (in the Department of Genetics and Biochemistry) and the University of South Carolina School of Medicine (in the Department of Anatomy and Cell Biology).\u00a0 He actively investigates pathogenic mechanisms and treatments for numerous genetic disorders in collaboration with his wife and colleague, Dr. Heather Flanagan-Steet.\u00a0 Dr. Steet is a dedicated advocate for rare disease, serving on the Scientific Advisory Boards for ISMRD and the MPS society, and is involved with numerous research networks focused on rare metabolic conditions.<\/p>\n
Research<\/strong><\/h2>\nThe research interests of Dr. Steet\u2019s laboratory lie at the intersection of glycobiology, lysosomal biology and human disease. Our current focus is aimed at defining the pathogenic mechanisms that underlie the lysosomal storage disorders and congenital disorders of glycosylation (CDG) using both zebrafish and cultured cells. In these systems, we employ a powerful combination of genetic, biochemical and microscopic methods to uncover the pathogenic cascades of these disorders and explore new ways to treat them.\u00a0 We are currently leveraging our experience defining disease mechanisms to functionally characterize novel disease\/gene associations and variants of uncertain significance.<\/p>\n
Recent Publications<\/strong><\/h2>\nYu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R<\/strong>.\u00a0Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.\u00a0<\/a>Genet Med.\u00a02021 Mar 17;.\u00a0doi: 10.1038\/s41436-021-01137-6.\u00a0[Epub ahead of print]\u00a0PubMed PMID: 33731878; NIHMSID:NIHMS1689971.<\/p>\nPhoomak C, Cui W, Hayman TJ, Yu SH, Zhao P, Wells L, Steet R<\/strong>, Contessa JN.\u00a0The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.\u00a0<\/a>Sci Adv.\u00a02021 Jan;7(3).\u00a0doi: 10.1126\/sciadv.abc6364.\u00a0Print 2021 Jan.\u00a0PubMed PMID: 33523898; PubMed Central PMCID: PMC7810369.<\/p>\nYu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R<\/strong>.\u00a0A Biochemical Platform to Define the Relative Specific Activity of\u00a0IDUA<\/em>\u00a0Variants Identified by Newborn Screening.\u00a0<\/a>Int J Neonatal Screen.\u00a02020 Nov 12;6(4).\u00a0doi: 10.3390\/ijns6040088.\u00a0PubMed PMID: 33198351; PubMed Central PMCID: PMC7711455.<\/p>\nLu PN, Moreland T, Christian CJ, Lund TC, Steet RA<\/strong>, Flanagan-Steet H.\u00a0Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.\u00a0<\/a>JCI Insight.\u00a02020 Oct 15;5(20).\u00a0doi: 10.1172\/jci.insight.133019.\u00a0PubMed PMID: 33055423; PubMed Central PMCID: PMC7605527.<\/p>\nCristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R<\/strong>, Van Esch H.\u00a0De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.\u00a0<\/a>Am J Hum Genet.\u00a02020 Oct 1;107(4):753-762.\u00a0doi: 10.1016\/j.ajhg.2020.08.015.\u00a0Epub 2020 Sep 9.\u00a0PubMed PMID: 32910914; PubMed Central PMCID: PMC7536573.<\/p>\nNaumchik BM, Gupta A, Flanagan-Steet H, Steet RA,<\/strong> Cathey SS, Orchard PJ, Lund TC.\u00a0The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.\u00a0<\/a>Cells.\u00a02020 Jun 5;9(6).\u00a0doi: 10.3390\/cells9061411.\u00a0Review.\u00a0PubMed PMID: 32517081; PubMed Central PMCID: PMC7348849.<\/p>\nAtes KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA.\u00a0Deficiency in the endocytic adaptor proteins PHETA1\/2 impairs renal and craniofacial development.\u00a0<\/a>Dis Model Mech.\u00a02020 May 26;13(5).\u00a0doi: 10.1242\/dmm.041913.\u00a0PubMed PMID: 32152089; PubMed Central PMCID: PMC7272357.<\/p>\nBarnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R<\/strong>.\u00a0Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGF\u03b2 in Mucolipidosis II Cells.\u00a0<\/a>Biomolecules.\u00a02020 Apr 26;10(5).\u00a0doi: 10.3390\/biom10050670.\u00a0PubMed PMID: 32357547; PubMed Central PMCID: PMC7277838.<\/p>\nNeighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.<\/strong>\u00a0Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.\u00a0<\/a>Mol Genet Genomic Med.\u00a02020 Mar;8(3):e1121.\u00a0doi: 10.1002\/mgg3.1121.\u00a0Epub 2020 Jan 5.\u00a0PubMed PMID: 31903733; PubMed Central PMCID: PMC7057109.<\/p>\nHan SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02020 Feb;129(2):73-79.\u00a0doi: 10.1016\/j.ymgme.2019.10.005.\u00a0Epub 2019 Oct 17.\u00a0PubMed PMID: 31645300; PubMed Central PMCID: PMC7002209.<\/p>\nKlaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.\u00a0<\/strong>Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.\u00a0<\/a>Dis Model Mech.\u00a02019 Jun 5;12(6).\u00a0doi: 10.1242\/dmm.039602.\u00a0PubMed PMID: 31101650; PubMed Central PMCID: PMC6602306.<\/p>\nYu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R<\/strong>.\u00a0Defective mucin-type glycosylation on \u03b1-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.\u00a0<\/a>J Biol Chem.\u00a02018 Sep 14;293(37):14534-14544.\u00a0doi: 10.1074\/jbc.RA118.003014.\u00a0Epub 2018 Jul 26.\u00a0PubMed PMID: 30049793; PubMed Central PMCID: PMC6139567.<\/p>\nKondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R<\/strong>, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.\u00a0Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.\u00a0<\/a>JCI Insight.\u00a02018 Jul 26;3(14).\u00a0doi: 10.1172\/jci.insight.121596.\u00a0eCollection 2018 Jul 26.\u00a0PubMed PMID: 30046013; PubMed Central PMCID: PMC6124414.<\/p>\nFlanagan-Steet H, Christian C, Lu PN, Aarnio-Peterson M, Sanman L, Archer-Hartmann S, Azadi P, Bogyo M, Steet RA<\/strong>.\u00a0TGF-\u00df Regulates Cathepsin Activation during Normal and Pathogenic Development.\u00a0<\/a>Cell Rep.\u00a02018 Mar 13;22(11):2964-2977.\u00a0doi: 10.1016\/j.celrep.2018.02.066.\u00a0PubMed PMID: 29539424; PubMed Central PMCID: PMC6247414.<\/p>\nAarnio-Peterson M, Zhao P, Yu SH, Christian C, Flanagan-Steet H, Wells L, Steet R<\/strong>.\u00a0Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.\u00a0<\/a>J Biol Chem.\u00a02017 Sep 8;292(36):15094-15104.\u00a0doi: 10.1074\/jbc.M117.790139.\u00a0Epub 2017 Jul 19.\u00a0PubMed PMID: 28724630; PubMed Central PMCID: PMC5592684.<\/p>\nBerger RP, Dookwah M, Steet R<\/strong>, Dalton S.\u00a0Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.\u00a0<\/a>Bioessays.\u00a02016 Dec;38(12):1255-1265.\u00a0doi: 10.1002\/bies.201600138.\u00a0Epub 2016 Sep 26.\u00a0Review.\u00a0PubMed PMID: 27667795; PubMed Central PMCID: PMC5214967.<\/p>\nSun T, Yu SH, Zhao P, Meng L, Moremen KW, Wells L, Steet R<\/strong>, Boons GJ.\u00a0One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.\u00a0<\/a>J Am Chem Soc.\u00a02016 Sep 14;138(36):11575-11582.\u00a0doi: 10.1021\/jacs.6b04049.\u00a0Epub 2016 Sep 1.\u00a0PubMed PMID: 27541995; PubMed Central PMCID: PMC5067740.<\/p>\nFlanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R<\/strong>.\u00a0Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase \u03b1\u03b2 and \u03b3 subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.\u00a0<\/a>Biochim Biophys Acta.\u00a02016 Sep;1860(9):1845-53.\u00a0doi: 10.1016\/j.bbagen.2016.05.029.\u00a0Epub 2016 May 27.\u00a0PubMed PMID: 27241848; PubMed Central PMCID: PMC4949139.<\/p>\nFlanagan-Steet H, Aarnio M, Kwan B, Guihard P, Petrey A, Haskins M, Blanchard F, Steet R<\/strong>.\u00a0Cathepsin-Mediated Alterations in TGF\u00df-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.\u00a0<\/a>J Bone Miner Res.\u00a02016 Mar;31(3):535-48.\u00a0doi: 10.1002\/jbmr.2722.\u00a0Epub 2015 Oct 13.\u00a0PubMed PMID: 26404503; PubMed Central PMCID: PMC4808492.<\/p>\nYu SH, Zhao P, Sun T, Gao Z, Moremen KW, Boons GJ, Wells L, Steet R<\/strong>.\u00a0Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.\u00a0<\/a>J Biol Chem.\u00a02016 Feb 19;291(8):3982-9.\u00a0doi: 10.1074\/jbc.M115.700369.\u00a0Epub 2016 Jan 5.\u00a0PubMed PMID: 26733198; PubMed Central PMCID: PMC4759176.<\/p>\nGurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA<\/strong>, Ruane T, O’Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.\u00a0Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.\u00a0<\/a>Mol Ther.\u00a02016 Feb;24(2):206-216.\u00a0doi: 10.1038\/mt.2015.189.\u00a0Epub 2015 Oct 8.\u00a0PubMed PMID: 26447927; PubMed Central PMCID: PMC4817811.<\/p>\nHan SO, Pope R, Li S, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02016 Feb;117(2):114-9.\u00a0doi: 10.1016\/j.ymgme.2015.09.012.\u00a0Epub 2015 Oct 3.\u00a0PubMed PMID: 26454691; PubMed Central PMCID: PMC4755835.<\/p>\nSutton DA, Yu SH, Steet R,<\/strong> Popik VV.\u00a0Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking.\u00a0<\/a>Chem Commun (Camb).\u00a02016 Jan 11;52(3):553-6.\u00a0doi: 10.1039\/c5cc08106h.\u00a0Epub 2015 Nov 5.\u00a0PubMed PMID: 26538499; PubMed Central PMCID: PMC4689622.<\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"
Director of Research, Greenwood Genetic Center Email: rsteet@ggc.org Biosketch A native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. […]<\/p>\n","protected":false},"author":13,"featured_media":971,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"Director of Research, Greenwood Genetic Center<\/strong>\r\n\r\nEmail: rsteet@ggc.org\r\n\r\nPhone: 864-388-1807\r\nBiosketch![\"richard](\"https:\/\/scienceweb.clemson.edu\/chg\/wp-content\/uploads\/sites\/4\/2021\/06\/richard-steet-ggc.jpg\")
<\/strong><\/h3>\r\nA native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. Louis, he began his independent research career at the Complex Carbohydrate Research Center on the University of Georgia campus in 2006.\u00a0 During this time, Dr. Steet expanded his research interests into the chemical glycobiology arena, helping to develop methods for the profiling of the cell surface glycoproteins.\u00a0 He was promoted to the rank of Associate Professor with tenure in 2012 and Full Professor in 2018.\u00a0 Dr. Steet moved his laboratory to the Greenwood Genetic Center in 2018 where he currently serves as the Director of Research and the Head of the JC Self Research Institute.\u00a0 He holds adjunct professor positions at both Clemson University (in the Department of Genetics and Biochemistry) and the University of South Carolina School of Medicine (in the Department of Anatomy and Cell Biology).\u00a0 He actively investigates pathogenic mechanisms and treatments for numerous genetic disorders in collaboration with his wife and colleague, Dr. Heather Flanagan-Steet.\u00a0 Dr. Steet is a dedicated advocate for rare disease, serving on the Scientific Advisory Boards for ISMRD and the MPS society, and is involved with numerous research networks focused on rare metabolic conditions.\r\nResearch<\/strong><\/h3>\r\nThe research interests of Dr. Steet\u2019s laboratory lie at the intersection of glycobiology, lysosomal biology and human disease. Our current focus is aimed at defining the pathogenic mechanisms that underlie the lysosomal storage disorders and congenital disorders of glycosylation (CDG) using both zebrafish and cultured cells. In these systems, we employ a powerful combination of genetic, biochemical and microscopic methods to uncover the pathogenic cascades of these disorders and explore new ways to treat them.\u00a0 We are currently leveraging our experience defining disease mechanisms to functionally characterize novel disease\/gene associations and variants of uncertain significance.\r\nRecent Publications<\/strong><\/h3>\r\nYu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R<\/strong>.\u00a0Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.\u00a0<\/a>Genet Med.\u00a02021 Mar 17;.\u00a0doi: 10.1038\/s41436-021-01137-6.\u00a0[Epub ahead of print]\u00a0PubMed PMID: 33731878; NIHMSID:NIHMS1689971.\r\n\r\nPhoomak C, Cui W, Hayman TJ, Yu SH, Zhao P, Wells L, Steet R<\/strong>, Contessa JN.\u00a0The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.\u00a0<\/a>Sci Adv.\u00a02021 Jan;7(3).\u00a0doi: 10.1126\/sciadv.abc6364.\u00a0Print 2021 Jan.\u00a0PubMed PMID: 33523898; PubMed Central PMCID: PMC7810369.\r\n\r\nYu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R<\/strong>.\u00a0A Biochemical Platform to Define the Relative Specific Activity of\u00a0IDUA<\/em>\u00a0Variants Identified by Newborn Screening.\u00a0<\/a>Int J Neonatal Screen.\u00a02020 Nov 12;6(4).\u00a0doi: 10.3390\/ijns6040088.\u00a0PubMed PMID: 33198351; PubMed Central PMCID: PMC7711455.\r\n\r\nLu PN, Moreland T, Christian CJ, Lund TC, Steet RA<\/strong>, Flanagan-Steet H.\u00a0Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.\u00a0<\/a>JCI Insight.\u00a02020 Oct 15;5(20).\u00a0doi: 10.1172\/jci.insight.133019.\u00a0PubMed PMID: 33055423; PubMed Central PMCID: PMC7605527.\r\n\r\nCristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R<\/strong>, Van Esch H.\u00a0De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.\u00a0<\/a>Am J Hum Genet.\u00a02020 Oct 1;107(4):753-762.\u00a0doi: 10.1016\/j.ajhg.2020.08.015.\u00a0Epub 2020 Sep 9.\u00a0PubMed PMID: 32910914; PubMed Central PMCID: PMC7536573.\r\n\r\nNaumchik BM, Gupta A, Flanagan-Steet H, Steet RA,<\/strong> Cathey SS, Orchard PJ, Lund TC.\u00a0The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.\u00a0<\/a>Cells.\u00a02020 Jun 5;9(6).\u00a0doi: 10.3390\/cells9061411.\u00a0Review.\u00a0PubMed PMID: 32517081; PubMed Central PMCID: PMC7348849.\r\n\r\nAtes KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA.\u00a0Deficiency in the endocytic adaptor proteins PHETA1\/2 impairs renal and craniofacial development.\u00a0<\/a>Dis Model Mech.\u00a02020 May 26;13(5).\u00a0doi: 10.1242\/dmm.041913.\u00a0PubMed PMID: 32152089; PubMed Central PMCID: PMC7272357.\r\n\r\nBarnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R<\/strong>.\u00a0Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGF\u03b2 in Mucolipidosis II Cells.\u00a0<\/a>Biomolecules.\u00a02020 Apr 26;10(5).\u00a0doi: 10.3390\/biom10050670.\u00a0PubMed PMID: 32357547; PubMed Central PMCID: PMC7277838.\r\n\r\nNeighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.<\/strong>\u00a0Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.\u00a0<\/a>Mol Genet Genomic Med.\u00a02020 Mar;8(3):e1121.\u00a0doi: 10.1002\/mgg3.1121.\u00a0Epub 2020 Jan 5.\u00a0PubMed PMID: 31903733; PubMed Central PMCID: PMC7057109.\r\n\r\nHan SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02020 Feb;129(2):73-79.\u00a0doi: 10.1016\/j.ymgme.2019.10.005.\u00a0Epub 2019 Oct 17.\u00a0PubMed PMID: 31645300; PubMed Central PMCID: PMC7002209.\r\n\r\nKlaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.\u00a0<\/strong>Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.\u00a0<\/a>Dis Model Mech.\u00a02019 Jun 5;12(6).\u00a0doi: 10.1242\/dmm.039602.\u00a0PubMed PMID: 31101650; PubMed Central PMCID: PMC6602306.\r\n\r\nYu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R<\/strong>.\u00a0Defective mucin-type glycosylation on \u03b1-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.\u00a0<\/a>J Biol Chem.\u00a02018 Sep 14;293(37):14534-14544.\u00a0doi: 10.1074\/jbc.RA118.003014.\u00a0Epub 2018 Jul 26.\u00a0PubMed PMID: 30049793; PubMed Central PMCID: PMC6139567.\r\n\r\nKondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R<\/strong>, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.\u00a0Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.\u00a0<\/a>JCI Insight.\u00a02018 Jul 26;3(14).\u00a0doi: 10.1172\/jci.insight.121596.\u00a0eCollection 2018 Jul 26.\u00a0PubMed PMID: 30046013; PubMed Central PMCID: PMC6124414.\r\n\r\nFlanagan-Steet H, Christian C, Lu PN, Aarnio-Peterson M, Sanman L, Archer-Hartmann S, Azadi P, Bogyo M, Steet RA<\/strong>.\u00a0TGF-\u00df Regulates Cathepsin Activation during Normal and Pathogenic Development.\u00a0<\/a>Cell Rep.\u00a02018 Mar 13;22(11):2964-2977.\u00a0doi: 10.1016\/j.celrep.2018.02.066.\u00a0PubMed PMID: 29539424; PubMed Central PMCID: PMC6247414.\r\n\r\nAarnio-Peterson M, Zhao P, Yu SH, Christian C, Flanagan-Steet H, Wells L, Steet R<\/strong>.\u00a0Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.\u00a0<\/a>J Biol Chem.\u00a02017 Sep 8;292(36):15094-15104.\u00a0doi: 10.1074\/jbc.M117.790139.\u00a0Epub 2017 Jul 19.\u00a0PubMed PMID: 28724630; PubMed Central PMCID: PMC5592684.\r\n\r\nBerger RP, Dookwah M, Steet R<\/strong>, Dalton S.\u00a0Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.\u00a0<\/a>Bioessays.\u00a02016 Dec;38(12):1255-1265.\u00a0doi: 10.1002\/bies.201600138.\u00a0Epub 2016 Sep 26.\u00a0Review.\u00a0PubMed PMID: 27667795; PubMed Central PMCID: PMC5214967.\r\n\r\nSun T, Yu SH, Zhao P, Meng L, Moremen KW, Wells L, Steet R<\/strong>, Boons GJ.\u00a0One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.\u00a0<\/a>J Am Chem Soc.\u00a02016 Sep 14;138(36):11575-11582.\u00a0doi: 10.1021\/jacs.6b04049.\u00a0Epub 2016 Sep 1.\u00a0PubMed PMID: 27541995; PubMed Central PMCID: PMC5067740.\r\n\r\nFlanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R<\/strong>.\u00a0Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase \u03b1\u03b2 and \u03b3 subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.\u00a0<\/a>Biochim Biophys Acta.\u00a02016 Sep;1860(9):1845-53.\u00a0doi: 10.1016\/j.bbagen.2016.05.029.\u00a0Epub 2016 May 27.\u00a0PubMed PMID: 27241848; PubMed Central PMCID: PMC4949139.\r\n\r\nFlanagan-Steet H, Aarnio M, Kwan B, Guihard P, Petrey A, Haskins M, Blanchard F, Steet R<\/strong>.\u00a0Cathepsin-Mediated Alterations in TGF\u00df-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.\u00a0<\/a>J Bone Miner Res.\u00a02016 Mar;31(3):535-48.\u00a0doi: 10.1002\/jbmr.2722.\u00a0Epub 2015 Oct 13.\u00a0PubMed PMID: 26404503; PubMed Central PMCID: PMC4808492.\r\n\r\nYu SH, Zhao P, Sun T, Gao Z, Moremen KW, Boons GJ, Wells L, Steet R<\/strong>.\u00a0Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.\u00a0<\/a>J Biol Chem.\u00a02016 Feb 19;291(8):3982-9.\u00a0doi: 10.1074\/jbc.M115.700369.\u00a0Epub 2016 Jan 5.\u00a0PubMed PMID: 26733198; PubMed Central PMCID: PMC4759176.\r\n\r\nGurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA<\/strong>, Ruane T, O'Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.\u00a0Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.\u00a0<\/a>Mol Ther.\u00a02016 Feb;24(2):206-216.\u00a0doi: 10.1038\/mt.2015.189.\u00a0Epub 2015 Oct 8.\u00a0PubMed PMID: 26447927; PubMed Central PMCID: PMC4817811.\r\n\r\nHan SO, Pope R, Li S, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02016 Feb;117(2):114-9.\u00a0doi: 10.1016\/j.ymgme.2015.09.012.\u00a0Epub 2015 Oct 3.\u00a0PubMed PMID: 26454691; PubMed Central PMCID: PMC4755835.\r\n\r\nSutton DA, Yu SH, Steet R,<\/strong> Popik VV.\u00a0Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking.\u00a0<\/a>Chem Commun (Camb).\u00a02016 Jan 11;52(3):553-6.\u00a0doi: 10.1039\/c5cc08106h.\u00a0Epub 2015 Nov 5.\u00a0PubMed PMID: 26538499; 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The research interests of Dr. Steet\u2019s laboratory lie at the intersection of glycobiology, lysosomal biology and human disease. Our current focus is aimed at defining the pathogenic mechanisms that underlie the lysosomal storage disorders and congenital disorders of glycosylation (CDG) using both zebrafish and cultured cells. In these systems, we employ a powerful combination of genetic, biochemical and microscopic methods to uncover the pathogenic cascades of these disorders and explore new ways to treat them.\u00a0 We are currently leveraging our experience defining disease mechanisms to functionally characterize novel disease\/gene associations and variants of uncertain significance.<\/p>\n
Recent Publications<\/strong><\/h2>\nYu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R<\/strong>.\u00a0Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.\u00a0<\/a>Genet Med.\u00a02021 Mar 17;.\u00a0doi: 10.1038\/s41436-021-01137-6.\u00a0[Epub ahead of print]\u00a0PubMed PMID: 33731878; NIHMSID:NIHMS1689971.<\/p>\nPhoomak C, Cui W, Hayman TJ, Yu SH, Zhao P, Wells L, Steet R<\/strong>, Contessa JN.\u00a0The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.\u00a0<\/a>Sci Adv.\u00a02021 Jan;7(3).\u00a0doi: 10.1126\/sciadv.abc6364.\u00a0Print 2021 Jan.\u00a0PubMed PMID: 33523898; PubMed Central PMCID: PMC7810369.<\/p>\nYu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R<\/strong>.\u00a0A Biochemical Platform to Define the Relative Specific Activity of\u00a0IDUA<\/em>\u00a0Variants Identified by Newborn Screening.\u00a0<\/a>Int J Neonatal Screen.\u00a02020 Nov 12;6(4).\u00a0doi: 10.3390\/ijns6040088.\u00a0PubMed PMID: 33198351; PubMed Central PMCID: PMC7711455.<\/p>\nLu PN, Moreland T, Christian CJ, Lund TC, Steet RA<\/strong>, Flanagan-Steet H.\u00a0Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.\u00a0<\/a>JCI Insight.\u00a02020 Oct 15;5(20).\u00a0doi: 10.1172\/jci.insight.133019.\u00a0PubMed PMID: 33055423; PubMed Central PMCID: PMC7605527.<\/p>\nCristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R<\/strong>, Van Esch H.\u00a0De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.\u00a0<\/a>Am J Hum Genet.\u00a02020 Oct 1;107(4):753-762.\u00a0doi: 10.1016\/j.ajhg.2020.08.015.\u00a0Epub 2020 Sep 9.\u00a0PubMed PMID: 32910914; PubMed Central PMCID: PMC7536573.<\/p>\nNaumchik BM, Gupta A, Flanagan-Steet H, Steet RA,<\/strong> Cathey SS, Orchard PJ, Lund TC.\u00a0The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.\u00a0<\/a>Cells.\u00a02020 Jun 5;9(6).\u00a0doi: 10.3390\/cells9061411.\u00a0Review.\u00a0PubMed PMID: 32517081; PubMed Central PMCID: PMC7348849.<\/p>\nAtes KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA.\u00a0Deficiency in the endocytic adaptor proteins PHETA1\/2 impairs renal and craniofacial development.\u00a0<\/a>Dis Model Mech.\u00a02020 May 26;13(5).\u00a0doi: 10.1242\/dmm.041913.\u00a0PubMed PMID: 32152089; PubMed Central PMCID: PMC7272357.<\/p>\nBarnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R<\/strong>.\u00a0Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGF\u03b2 in Mucolipidosis II Cells.\u00a0<\/a>Biomolecules.\u00a02020 Apr 26;10(5).\u00a0doi: 10.3390\/biom10050670.\u00a0PubMed PMID: 32357547; PubMed Central PMCID: PMC7277838.<\/p>\nNeighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.<\/strong>\u00a0Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.\u00a0<\/a>Mol Genet Genomic Med.\u00a02020 Mar;8(3):e1121.\u00a0doi: 10.1002\/mgg3.1121.\u00a0Epub 2020 Jan 5.\u00a0PubMed PMID: 31903733; PubMed Central PMCID: PMC7057109.<\/p>\nHan SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02020 Feb;129(2):73-79.\u00a0doi: 10.1016\/j.ymgme.2019.10.005.\u00a0Epub 2019 Oct 17.\u00a0PubMed PMID: 31645300; PubMed Central PMCID: PMC7002209.<\/p>\nKlaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.\u00a0<\/strong>Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.\u00a0<\/a>Dis Model Mech.\u00a02019 Jun 5;12(6).\u00a0doi: 10.1242\/dmm.039602.\u00a0PubMed PMID: 31101650; PubMed Central PMCID: PMC6602306.<\/p>\nYu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R<\/strong>.\u00a0Defective mucin-type glycosylation on \u03b1-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.\u00a0<\/a>J Biol Chem.\u00a02018 Sep 14;293(37):14534-14544.\u00a0doi: 10.1074\/jbc.RA118.003014.\u00a0Epub 2018 Jul 26.\u00a0PubMed PMID: 30049793; PubMed Central PMCID: PMC6139567.<\/p>\nKondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R<\/strong>, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.\u00a0Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.\u00a0<\/a>JCI Insight.\u00a02018 Jul 26;3(14).\u00a0doi: 10.1172\/jci.insight.121596.\u00a0eCollection 2018 Jul 26.\u00a0PubMed PMID: 30046013; PubMed Central PMCID: PMC6124414.<\/p>\nFlanagan-Steet H, Christian C, Lu PN, Aarnio-Peterson M, Sanman L, Archer-Hartmann S, Azadi P, Bogyo M, Steet RA<\/strong>.\u00a0TGF-\u00df Regulates Cathepsin Activation during Normal and Pathogenic Development.\u00a0<\/a>Cell Rep.\u00a02018 Mar 13;22(11):2964-2977.\u00a0doi: 10.1016\/j.celrep.2018.02.066.\u00a0PubMed PMID: 29539424; PubMed Central PMCID: PMC6247414.<\/p>\nAarnio-Peterson M, Zhao P, Yu SH, Christian C, Flanagan-Steet H, Wells L, Steet R<\/strong>.\u00a0Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.\u00a0<\/a>J Biol Chem.\u00a02017 Sep 8;292(36):15094-15104.\u00a0doi: 10.1074\/jbc.M117.790139.\u00a0Epub 2017 Jul 19.\u00a0PubMed PMID: 28724630; PubMed Central PMCID: PMC5592684.<\/p>\nBerger RP, Dookwah M, Steet R<\/strong>, Dalton S.\u00a0Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.\u00a0<\/a>Bioessays.\u00a02016 Dec;38(12):1255-1265.\u00a0doi: 10.1002\/bies.201600138.\u00a0Epub 2016 Sep 26.\u00a0Review.\u00a0PubMed PMID: 27667795; PubMed Central PMCID: PMC5214967.<\/p>\nSun T, Yu SH, Zhao P, Meng L, Moremen KW, Wells L, Steet R<\/strong>, Boons GJ.\u00a0One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.\u00a0<\/a>J Am Chem Soc.\u00a02016 Sep 14;138(36):11575-11582.\u00a0doi: 10.1021\/jacs.6b04049.\u00a0Epub 2016 Sep 1.\u00a0PubMed PMID: 27541995; PubMed Central PMCID: PMC5067740.<\/p>\nFlanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R<\/strong>.\u00a0Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase \u03b1\u03b2 and \u03b3 subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.\u00a0<\/a>Biochim Biophys Acta.\u00a02016 Sep;1860(9):1845-53.\u00a0doi: 10.1016\/j.bbagen.2016.05.029.\u00a0Epub 2016 May 27.\u00a0PubMed PMID: 27241848; PubMed Central PMCID: PMC4949139.<\/p>\nFlanagan-Steet H, Aarnio M, Kwan B, Guihard P, Petrey A, Haskins M, Blanchard F, Steet R<\/strong>.\u00a0Cathepsin-Mediated Alterations in TGF\u00df-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.\u00a0<\/a>J Bone Miner Res.\u00a02016 Mar;31(3):535-48.\u00a0doi: 10.1002\/jbmr.2722.\u00a0Epub 2015 Oct 13.\u00a0PubMed PMID: 26404503; PubMed Central PMCID: PMC4808492.<\/p>\nYu SH, Zhao P, Sun T, Gao Z, Moremen KW, Boons GJ, Wells L, Steet R<\/strong>.\u00a0Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.\u00a0<\/a>J Biol Chem.\u00a02016 Feb 19;291(8):3982-9.\u00a0doi: 10.1074\/jbc.M115.700369.\u00a0Epub 2016 Jan 5.\u00a0PubMed PMID: 26733198; PubMed Central PMCID: PMC4759176.<\/p>\nGurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA<\/strong>, Ruane T, O’Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.\u00a0Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.\u00a0<\/a>Mol Ther.\u00a02016 Feb;24(2):206-216.\u00a0doi: 10.1038\/mt.2015.189.\u00a0Epub 2015 Oct 8.\u00a0PubMed PMID: 26447927; PubMed Central PMCID: PMC4817811.<\/p>\nHan SO, Pope R, Li S, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02016 Feb;117(2):114-9.\u00a0doi: 10.1016\/j.ymgme.2015.09.012.\u00a0Epub 2015 Oct 3.\u00a0PubMed PMID: 26454691; PubMed Central PMCID: PMC4755835.<\/p>\nSutton DA, Yu SH, Steet R,<\/strong> Popik VV.\u00a0Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking.\u00a0<\/a>Chem Commun (Camb).\u00a02016 Jan 11;52(3):553-6.\u00a0doi: 10.1039\/c5cc08106h.\u00a0Epub 2015 Nov 5.\u00a0PubMed PMID: 26538499; PubMed Central PMCID: PMC4689622.<\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"
Director of Research, Greenwood Genetic Center Email: rsteet@ggc.org Biosketch A native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. […]<\/p>\n","protected":false},"author":13,"featured_media":971,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"Director of Research, Greenwood Genetic Center<\/strong>\r\n\r\nEmail: rsteet@ggc.org\r\n\r\nPhone: 864-388-1807\r\nBiosketch<\/strong><\/h3>\r\nA native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. Louis, he began his independent research career at the Complex Carbohydrate Research Center on the University of Georgia campus in 2006.\u00a0 During this time, Dr. Steet expanded his research interests into the chemical glycobiology arena, helping to develop methods for the profiling of the cell surface glycoproteins.\u00a0 He was promoted to the rank of Associate Professor with tenure in 2012 and Full Professor in 2018.\u00a0 Dr. Steet moved his laboratory to the Greenwood Genetic Center in 2018 where he currently serves as the Director of Research and the Head of the JC Self Research Institute.\u00a0 He holds adjunct professor positions at both Clemson University (in the Department of Genetics and Biochemistry) and the University of South Carolina School of Medicine (in the Department of Anatomy and Cell Biology).\u00a0 He actively investigates pathogenic mechanisms and treatments for numerous genetic disorders in collaboration with his wife and colleague, Dr. Heather Flanagan-Steet.\u00a0 Dr. Steet is a dedicated advocate for rare disease, serving on the Scientific Advisory Boards for ISMRD and the MPS society, and is involved with numerous research networks focused on rare metabolic conditions.\r\nResearch<\/strong><\/h3>\r\nThe research interests of Dr. Steet\u2019s laboratory lie at the intersection of glycobiology, lysosomal biology and human disease. Our current focus is aimed at defining the pathogenic mechanisms that underlie the lysosomal storage disorders and congenital disorders of glycosylation (CDG) using both zebrafish and cultured cells. In these systems, we employ a powerful combination of genetic, biochemical and microscopic methods to uncover the pathogenic cascades of these disorders and explore new ways to treat them.\u00a0 We are currently leveraging our experience defining disease mechanisms to functionally characterize novel disease\/gene associations and variants of uncertain significance.\r\nRecent Publications<\/strong><\/h3>\r\nYu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R<\/strong>.\u00a0Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.\u00a0<\/a>Genet Med.\u00a02021 Mar 17;.\u00a0doi: 10.1038\/s41436-021-01137-6.\u00a0[Epub ahead of print]\u00a0PubMed PMID: 33731878; NIHMSID:NIHMS1689971.\r\n\r\nPhoomak C, Cui W, Hayman TJ, Yu SH, Zhao P, Wells L, Steet R<\/strong>, Contessa JN.\u00a0The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.\u00a0<\/a>Sci Adv.\u00a02021 Jan;7(3).\u00a0doi: 10.1126\/sciadv.abc6364.\u00a0Print 2021 Jan.\u00a0PubMed PMID: 33523898; PubMed Central PMCID: PMC7810369.\r\n\r\nYu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R<\/strong>.\u00a0A Biochemical Platform to Define the Relative Specific Activity of\u00a0IDUA<\/em>\u00a0Variants Identified by Newborn Screening.\u00a0<\/a>Int J Neonatal Screen.\u00a02020 Nov 12;6(4).\u00a0doi: 10.3390\/ijns6040088.\u00a0PubMed PMID: 33198351; PubMed Central PMCID: PMC7711455.\r\n\r\nLu PN, Moreland T, Christian CJ, Lund TC, Steet RA<\/strong>, Flanagan-Steet H.\u00a0Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.\u00a0<\/a>JCI Insight.\u00a02020 Oct 15;5(20).\u00a0doi: 10.1172\/jci.insight.133019.\u00a0PubMed PMID: 33055423; PubMed Central PMCID: PMC7605527.\r\n\r\nCristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R<\/strong>, Van Esch H.\u00a0De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.\u00a0<\/a>Am J Hum Genet.\u00a02020 Oct 1;107(4):753-762.\u00a0doi: 10.1016\/j.ajhg.2020.08.015.\u00a0Epub 2020 Sep 9.\u00a0PubMed PMID: 32910914; PubMed Central PMCID: PMC7536573.\r\n\r\nNaumchik BM, Gupta A, Flanagan-Steet H, Steet RA,<\/strong> Cathey SS, Orchard PJ, Lund TC.\u00a0The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.\u00a0<\/a>Cells.\u00a02020 Jun 5;9(6).\u00a0doi: 10.3390\/cells9061411.\u00a0Review.\u00a0PubMed PMID: 32517081; PubMed Central PMCID: PMC7348849.\r\n\r\nAtes KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA.\u00a0Deficiency in the endocytic adaptor proteins PHETA1\/2 impairs renal and craniofacial development.\u00a0<\/a>Dis Model Mech.\u00a02020 May 26;13(5).\u00a0doi: 10.1242\/dmm.041913.\u00a0PubMed PMID: 32152089; PubMed Central PMCID: PMC7272357.\r\n\r\nBarnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R<\/strong>.\u00a0Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGF\u03b2 in Mucolipidosis II Cells.\u00a0<\/a>Biomolecules.\u00a02020 Apr 26;10(5).\u00a0doi: 10.3390\/biom10050670.\u00a0PubMed PMID: 32357547; PubMed Central PMCID: PMC7277838.\r\n\r\nNeighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.<\/strong>\u00a0Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.\u00a0<\/a>Mol Genet Genomic Med.\u00a02020 Mar;8(3):e1121.\u00a0doi: 10.1002\/mgg3.1121.\u00a0Epub 2020 Jan 5.\u00a0PubMed PMID: 31903733; PubMed Central PMCID: PMC7057109.\r\n\r\nHan SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02020 Feb;129(2):73-79.\u00a0doi: 10.1016\/j.ymgme.2019.10.005.\u00a0Epub 2019 Oct 17.\u00a0PubMed PMID: 31645300; PubMed Central PMCID: PMC7002209.\r\n\r\nKlaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.\u00a0<\/strong>Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.\u00a0<\/a>Dis Model Mech.\u00a02019 Jun 5;12(6).\u00a0doi: 10.1242\/dmm.039602.\u00a0PubMed PMID: 31101650; PubMed Central PMCID: PMC6602306.\r\n\r\nYu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R<\/strong>.\u00a0Defective mucin-type glycosylation on \u03b1-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.\u00a0<\/a>J Biol Chem.\u00a02018 Sep 14;293(37):14534-14544.\u00a0doi: 10.1074\/jbc.RA118.003014.\u00a0Epub 2018 Jul 26.\u00a0PubMed PMID: 30049793; PubMed Central PMCID: PMC6139567.\r\n\r\nKondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R<\/strong>, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.\u00a0Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.\u00a0<\/a>JCI Insight.\u00a02018 Jul 26;3(14).\u00a0doi: 10.1172\/jci.insight.121596.\u00a0eCollection 2018 Jul 26.\u00a0PubMed PMID: 30046013; PubMed Central PMCID: PMC6124414.\r\n\r\nFlanagan-Steet H, Christian C, Lu PN, Aarnio-Peterson M, Sanman L, Archer-Hartmann S, Azadi P, Bogyo M, Steet RA<\/strong>.\u00a0TGF-\u00df Regulates Cathepsin Activation during Normal and Pathogenic Development.\u00a0<\/a>Cell Rep.\u00a02018 Mar 13;22(11):2964-2977.\u00a0doi: 10.1016\/j.celrep.2018.02.066.\u00a0PubMed PMID: 29539424; PubMed Central PMCID: PMC6247414.\r\n\r\nAarnio-Peterson M, Zhao P, Yu SH, Christian C, Flanagan-Steet H, Wells L, Steet R<\/strong>.\u00a0Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.\u00a0<\/a>J Biol Chem.\u00a02017 Sep 8;292(36):15094-15104.\u00a0doi: 10.1074\/jbc.M117.790139.\u00a0Epub 2017 Jul 19.\u00a0PubMed PMID: 28724630; PubMed Central PMCID: PMC5592684.\r\n\r\nBerger RP, Dookwah M, Steet R<\/strong>, Dalton S.\u00a0Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.\u00a0<\/a>Bioessays.\u00a02016 Dec;38(12):1255-1265.\u00a0doi: 10.1002\/bies.201600138.\u00a0Epub 2016 Sep 26.\u00a0Review.\u00a0PubMed PMID: 27667795; PubMed Central PMCID: PMC5214967.\r\n\r\nSun T, Yu SH, Zhao P, Meng L, Moremen KW, Wells L, Steet R<\/strong>, Boons GJ.\u00a0One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.\u00a0<\/a>J Am Chem Soc.\u00a02016 Sep 14;138(36):11575-11582.\u00a0doi: 10.1021\/jacs.6b04049.\u00a0Epub 2016 Sep 1.\u00a0PubMed PMID: 27541995; PubMed Central PMCID: PMC5067740.\r\n\r\nFlanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R<\/strong>.\u00a0Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase \u03b1\u03b2 and \u03b3 subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.\u00a0<\/a>Biochim Biophys Acta.\u00a02016 Sep;1860(9):1845-53.\u00a0doi: 10.1016\/j.bbagen.2016.05.029.\u00a0Epub 2016 May 27.\u00a0PubMed PMID: 27241848; PubMed Central PMCID: PMC4949139.\r\n\r\nFlanagan-Steet H, Aarnio M, Kwan B, Guihard P, Petrey A, Haskins M, Blanchard F, Steet R<\/strong>.\u00a0Cathepsin-Mediated Alterations in TGF\u00df-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.\u00a0<\/a>J Bone Miner Res.\u00a02016 Mar;31(3):535-48.\u00a0doi: 10.1002\/jbmr.2722.\u00a0Epub 2015 Oct 13.\u00a0PubMed PMID: 26404503; PubMed Central PMCID: PMC4808492.\r\n\r\nYu SH, Zhao P, Sun T, Gao Z, Moremen KW, Boons GJ, Wells L, Steet R<\/strong>.\u00a0Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.\u00a0<\/a>J Biol Chem.\u00a02016 Feb 19;291(8):3982-9.\u00a0doi: 10.1074\/jbc.M115.700369.\u00a0Epub 2016 Jan 5.\u00a0PubMed PMID: 26733198; PubMed Central PMCID: PMC4759176.\r\n\r\nGurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA<\/strong>, Ruane T, O'Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.\u00a0Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.\u00a0<\/a>Mol Ther.\u00a02016 Feb;24(2):206-216.\u00a0doi: 10.1038\/mt.2015.189.\u00a0Epub 2015 Oct 8.\u00a0PubMed PMID: 26447927; PubMed Central PMCID: PMC4817811.\r\n\r\nHan SO, Pope R, Li S, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02016 Feb;117(2):114-9.\u00a0doi: 10.1016\/j.ymgme.2015.09.012.\u00a0Epub 2015 Oct 3.\u00a0PubMed PMID: 26454691; PubMed Central PMCID: PMC4755835.\r\n\r\nSutton DA, Yu SH, Steet R,<\/strong> Popik VV.\u00a0Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking.\u00a0<\/a>Chem Commun (Camb).\u00a02016 Jan 11;52(3):553-6.\u00a0doi: 10.1039\/c5cc08106h.\u00a0Epub 2015 Nov 5.\u00a0PubMed PMID: 26538499; PubMed Central PMCID: PMC4689622.","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[12],"tags":[],"class_list":["post-970","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-faculty"],"_links":{"self":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/posts\/970","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/comments?post=970"}],"version-history":[{"count":0,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/posts\/970\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/media\/971"}],"wp:attachment":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/media?parent=970"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/categories?post=970"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/tags?post=970"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Phoomak C, Cui W, Hayman TJ, Yu SH, Zhao P, Wells L, Steet R<\/strong>, Contessa JN.\u00a0The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.\u00a0<\/a>Sci Adv.\u00a02021 Jan;7(3).\u00a0doi: 10.1126\/sciadv.abc6364.\u00a0Print 2021 Jan.\u00a0PubMed PMID: 33523898; PubMed Central PMCID: PMC7810369.<\/p>\n Yu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R<\/strong>.\u00a0A Biochemical Platform to Define the Relative Specific Activity of\u00a0IDUA<\/em>\u00a0Variants Identified by Newborn Screening.\u00a0<\/a>Int J Neonatal Screen.\u00a02020 Nov 12;6(4).\u00a0doi: 10.3390\/ijns6040088.\u00a0PubMed PMID: 33198351; PubMed Central PMCID: PMC7711455.<\/p>\n Lu PN, Moreland T, Christian CJ, Lund TC, Steet RA<\/strong>, Flanagan-Steet H.\u00a0Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.\u00a0<\/a>JCI Insight.\u00a02020 Oct 15;5(20).\u00a0doi: 10.1172\/jci.insight.133019.\u00a0PubMed PMID: 33055423; PubMed Central PMCID: PMC7605527.<\/p>\n Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R<\/strong>, Van Esch H.\u00a0De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.\u00a0<\/a>Am J Hum Genet.\u00a02020 Oct 1;107(4):753-762.\u00a0doi: 10.1016\/j.ajhg.2020.08.015.\u00a0Epub 2020 Sep 9.\u00a0PubMed PMID: 32910914; PubMed Central PMCID: PMC7536573.<\/p>\n Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA,<\/strong> Cathey SS, Orchard PJ, Lund TC.\u00a0The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.\u00a0<\/a>Cells.\u00a02020 Jun 5;9(6).\u00a0doi: 10.3390\/cells9061411.\u00a0Review.\u00a0PubMed PMID: 32517081; PubMed Central PMCID: PMC7348849.<\/p>\n Ates KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA.\u00a0Deficiency in the endocytic adaptor proteins PHETA1\/2 impairs renal and craniofacial development.\u00a0<\/a>Dis Model Mech.\u00a02020 May 26;13(5).\u00a0doi: 10.1242\/dmm.041913.\u00a0PubMed PMID: 32152089; PubMed Central PMCID: PMC7272357.<\/p>\n Barnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R<\/strong>.\u00a0Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGF\u03b2 in Mucolipidosis II Cells.\u00a0<\/a>Biomolecules.\u00a02020 Apr 26;10(5).\u00a0doi: 10.3390\/biom10050670.\u00a0PubMed PMID: 32357547; PubMed Central PMCID: PMC7277838.<\/p>\n Neighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.<\/strong>\u00a0Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.\u00a0<\/a>Mol Genet Genomic Med.\u00a02020 Mar;8(3):e1121.\u00a0doi: 10.1002\/mgg3.1121.\u00a0Epub 2020 Jan 5.\u00a0PubMed PMID: 31903733; PubMed Central PMCID: PMC7057109.<\/p>\n Han SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02020 Feb;129(2):73-79.\u00a0doi: 10.1016\/j.ymgme.2019.10.005.\u00a0Epub 2019 Oct 17.\u00a0PubMed PMID: 31645300; PubMed Central PMCID: PMC7002209.<\/p>\n Klaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.\u00a0<\/strong>Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.\u00a0<\/a>Dis Model Mech.\u00a02019 Jun 5;12(6).\u00a0doi: 10.1242\/dmm.039602.\u00a0PubMed PMID: 31101650; PubMed Central PMCID: PMC6602306.<\/p>\n Yu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R<\/strong>.\u00a0Defective mucin-type glycosylation on \u03b1-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.\u00a0<\/a>J Biol Chem.\u00a02018 Sep 14;293(37):14534-14544.\u00a0doi: 10.1074\/jbc.RA118.003014.\u00a0Epub 2018 Jul 26.\u00a0PubMed PMID: 30049793; PubMed Central PMCID: PMC6139567.<\/p>\n Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R<\/strong>, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.\u00a0Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.\u00a0<\/a>JCI Insight.\u00a02018 Jul 26;3(14).\u00a0doi: 10.1172\/jci.insight.121596.\u00a0eCollection 2018 Jul 26.\u00a0PubMed PMID: 30046013; PubMed Central PMCID: PMC6124414.<\/p>\n Flanagan-Steet H, Christian C, Lu PN, Aarnio-Peterson M, Sanman L, Archer-Hartmann S, Azadi P, Bogyo M, Steet RA<\/strong>.\u00a0TGF-\u00df Regulates Cathepsin Activation during Normal and Pathogenic Development.\u00a0<\/a>Cell Rep.\u00a02018 Mar 13;22(11):2964-2977.\u00a0doi: 10.1016\/j.celrep.2018.02.066.\u00a0PubMed PMID: 29539424; PubMed Central PMCID: PMC6247414.<\/p>\n Aarnio-Peterson M, Zhao P, Yu SH, Christian C, Flanagan-Steet H, Wells L, Steet R<\/strong>.\u00a0Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.\u00a0<\/a>J Biol Chem.\u00a02017 Sep 8;292(36):15094-15104.\u00a0doi: 10.1074\/jbc.M117.790139.\u00a0Epub 2017 Jul 19.\u00a0PubMed PMID: 28724630; PubMed Central PMCID: PMC5592684.<\/p>\n Berger RP, Dookwah M, Steet R<\/strong>, Dalton S.\u00a0Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.\u00a0<\/a>Bioessays.\u00a02016 Dec;38(12):1255-1265.\u00a0doi: 10.1002\/bies.201600138.\u00a0Epub 2016 Sep 26.\u00a0Review.\u00a0PubMed PMID: 27667795; PubMed Central PMCID: PMC5214967.<\/p>\n Sun T, Yu SH, Zhao P, Meng L, Moremen KW, Wells L, Steet R<\/strong>, Boons GJ.\u00a0One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.\u00a0<\/a>J Am Chem Soc.\u00a02016 Sep 14;138(36):11575-11582.\u00a0doi: 10.1021\/jacs.6b04049.\u00a0Epub 2016 Sep 1.\u00a0PubMed PMID: 27541995; PubMed Central PMCID: PMC5067740.<\/p>\n Flanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R<\/strong>.\u00a0Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase \u03b1\u03b2 and \u03b3 subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.\u00a0<\/a>Biochim Biophys Acta.\u00a02016 Sep;1860(9):1845-53.\u00a0doi: 10.1016\/j.bbagen.2016.05.029.\u00a0Epub 2016 May 27.\u00a0PubMed PMID: 27241848; PubMed Central PMCID: PMC4949139.<\/p>\n Flanagan-Steet H, Aarnio M, Kwan B, Guihard P, Petrey A, Haskins M, Blanchard F, Steet R<\/strong>.\u00a0Cathepsin-Mediated Alterations in TGF\u00df-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.\u00a0<\/a>J Bone Miner Res.\u00a02016 Mar;31(3):535-48.\u00a0doi: 10.1002\/jbmr.2722.\u00a0Epub 2015 Oct 13.\u00a0PubMed PMID: 26404503; PubMed Central PMCID: PMC4808492.<\/p>\n Yu SH, Zhao P, Sun T, Gao Z, Moremen KW, Boons GJ, Wells L, Steet R<\/strong>.\u00a0Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.\u00a0<\/a>J Biol Chem.\u00a02016 Feb 19;291(8):3982-9.\u00a0doi: 10.1074\/jbc.M115.700369.\u00a0Epub 2016 Jan 5.\u00a0PubMed PMID: 26733198; PubMed Central PMCID: PMC4759176.<\/p>\n Gurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA<\/strong>, Ruane T, O’Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.\u00a0Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.\u00a0<\/a>Mol Ther.\u00a02016 Feb;24(2):206-216.\u00a0doi: 10.1038\/mt.2015.189.\u00a0Epub 2015 Oct 8.\u00a0PubMed PMID: 26447927; PubMed Central PMCID: PMC4817811.<\/p>\n Han SO, Pope R, Li S, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02016 Feb;117(2):114-9.\u00a0doi: 10.1016\/j.ymgme.2015.09.012.\u00a0Epub 2015 Oct 3.\u00a0PubMed PMID: 26454691; PubMed Central PMCID: PMC4755835.<\/p>\n Sutton DA, Yu SH, Steet R,<\/strong> Popik VV.\u00a0Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking.\u00a0<\/a>Chem Commun (Camb).\u00a02016 Jan 11;52(3):553-6.\u00a0doi: 10.1039\/c5cc08106h.\u00a0Epub 2015 Nov 5.\u00a0PubMed PMID: 26538499; PubMed Central PMCID: PMC4689622.<\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" Director of Research, Greenwood Genetic Center Email: rsteet@ggc.org Biosketch A native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. […]<\/p>\n","protected":false},"author":13,"featured_media":971,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"Director of Research, Greenwood Genetic Center<\/strong>\r\n\r\nEmail: rsteet@ggc.org\r\n\r\nPhone: 864-388-1807\r\nBiosketch
<\/strong><\/h3>\r\nA native of upstate New York, Dr. Steet received his B.A. in biochemistry from Colgate University in 1994 and his Ph.D. from the University of Colorado-Boulder in 2000.\u00a0 Following postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. Louis, he began his independent research career at the Complex Carbohydrate Research Center on the University of Georgia campus in 2006.\u00a0 During this time, Dr. Steet expanded his research interests into the chemical glycobiology arena, helping to develop methods for the profiling of the cell surface glycoproteins.\u00a0 He was promoted to the rank of Associate Professor with tenure in 2012 and Full Professor in 2018.\u00a0 Dr. Steet moved his laboratory to the Greenwood Genetic Center in 2018 where he currently serves as the Director of Research and the Head of the JC Self Research Institute.\u00a0 He holds adjunct professor positions at both Clemson University (in the Department of Genetics and Biochemistry) and the University of South Carolina School of Medicine (in the Department of Anatomy and Cell Biology).\u00a0 He actively investigates pathogenic mechanisms and treatments for numerous genetic disorders in collaboration with his wife and colleague, Dr. Heather Flanagan-Steet.\u00a0 Dr. Steet is a dedicated advocate for rare disease, serving on the Scientific Advisory Boards for ISMRD and the MPS society, and is involved with numerous research networks focused on rare metabolic conditions.\r\nResearch<\/strong><\/h3>\r\nThe research interests of Dr. Steet\u2019s laboratory lie at the intersection of glycobiology, lysosomal biology and human disease. Our current focus is aimed at defining the pathogenic mechanisms that underlie the lysosomal storage disorders and congenital disorders of glycosylation (CDG) using both zebrafish and cultured cells. In these systems, we employ a powerful combination of genetic, biochemical and microscopic methods to uncover the pathogenic cascades of these disorders and explore new ways to treat them.\u00a0 We are currently leveraging our experience defining disease mechanisms to functionally characterize novel disease\/gene associations and variants of uncertain significance.\r\n
Recent Publications<\/strong><\/h3>\r\nYu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R<\/strong>.\u00a0Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.\u00a0<\/a>Genet Med.\u00a02021 Mar 17;.\u00a0doi: 10.1038\/s41436-021-01137-6.\u00a0[Epub ahead of print]\u00a0PubMed PMID: 33731878; NIHMSID:NIHMS1689971.\r\n\r\nPhoomak C, Cui W, Hayman TJ, Yu SH, Zhao P, Wells L, Steet R<\/strong>, Contessa JN.\u00a0The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.\u00a0<\/a>Sci Adv.\u00a02021 Jan;7(3).\u00a0doi: 10.1126\/sciadv.abc6364.\u00a0Print 2021 Jan.\u00a0PubMed PMID: 33523898; PubMed Central PMCID: PMC7810369.\r\n\r\nYu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R<\/strong>.\u00a0A Biochemical Platform to Define the Relative Specific Activity of\u00a0IDUA<\/em>\u00a0Variants Identified by Newborn Screening.\u00a0<\/a>Int J Neonatal Screen.\u00a02020 Nov 12;6(4).\u00a0doi: 10.3390\/ijns6040088.\u00a0PubMed PMID: 33198351; PubMed Central PMCID: PMC7711455.\r\n\r\nLu PN, Moreland T, Christian CJ, Lund TC, Steet RA<\/strong>, Flanagan-Steet H.\u00a0Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.\u00a0<\/a>JCI Insight.\u00a02020 Oct 15;5(20).\u00a0doi: 10.1172\/jci.insight.133019.\u00a0PubMed PMID: 33055423; PubMed Central PMCID: PMC7605527.\r\n\r\nCristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R<\/strong>, Van Esch H.\u00a0De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.\u00a0<\/a>Am J Hum Genet.\u00a02020 Oct 1;107(4):753-762.\u00a0doi: 10.1016\/j.ajhg.2020.08.015.\u00a0Epub 2020 Sep 9.\u00a0PubMed PMID: 32910914; PubMed Central PMCID: PMC7536573.\r\n\r\nNaumchik BM, Gupta A, Flanagan-Steet H, Steet RA,<\/strong> Cathey SS, Orchard PJ, Lund TC.\u00a0The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.\u00a0<\/a>Cells.\u00a02020 Jun 5;9(6).\u00a0doi: 10.3390\/cells9061411.\u00a0Review.\u00a0PubMed PMID: 32517081; PubMed Central PMCID: PMC7348849.\r\n\r\nAtes KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA.\u00a0Deficiency in the endocytic adaptor proteins PHETA1\/2 impairs renal and craniofacial development.\u00a0<\/a>Dis Model Mech.\u00a02020 May 26;13(5).\u00a0doi: 10.1242\/dmm.041913.\u00a0PubMed PMID: 32152089; PubMed Central PMCID: PMC7272357.\r\n\r\nBarnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R<\/strong>.\u00a0Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGF\u03b2 in Mucolipidosis II Cells.\u00a0<\/a>Biomolecules.\u00a02020 Apr 26;10(5).\u00a0doi: 10.3390\/biom10050670.\u00a0PubMed PMID: 32357547; PubMed Central PMCID: PMC7277838.\r\n\r\nNeighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R.<\/strong>\u00a0Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.\u00a0<\/a>Mol Genet Genomic Med.\u00a02020 Mar;8(3):e1121.\u00a0doi: 10.1002\/mgg3.1121.\u00a0Epub 2020 Jan 5.\u00a0PubMed PMID: 31903733; PubMed Central PMCID: PMC7057109.\r\n\r\nHan SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02020 Feb;129(2):73-79.\u00a0doi: 10.1016\/j.ymgme.2019.10.005.\u00a0Epub 2019 Oct 17.\u00a0PubMed PMID: 31645300; PubMed Central PMCID: PMC7002209.\r\n\r\nKlaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.\u00a0<\/strong>Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.\u00a0<\/a>Dis Model Mech.\u00a02019 Jun 5;12(6).\u00a0doi: 10.1242\/dmm.039602.\u00a0PubMed PMID: 31101650; PubMed Central PMCID: PMC6602306.\r\n\r\nYu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R<\/strong>.\u00a0Defective mucin-type glycosylation on \u03b1-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.\u00a0<\/a>J Biol Chem.\u00a02018 Sep 14;293(37):14534-14544.\u00a0doi: 10.1074\/jbc.RA118.003014.\u00a0Epub 2018 Jul 26.\u00a0PubMed PMID: 30049793; PubMed Central PMCID: PMC6139567.\r\n\r\nKondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R<\/strong>, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.\u00a0Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.\u00a0<\/a>JCI Insight.\u00a02018 Jul 26;3(14).\u00a0doi: 10.1172\/jci.insight.121596.\u00a0eCollection 2018 Jul 26.\u00a0PubMed PMID: 30046013; PubMed Central PMCID: PMC6124414.\r\n\r\nFlanagan-Steet H, Christian C, Lu PN, Aarnio-Peterson M, Sanman L, Archer-Hartmann S, Azadi P, Bogyo M, Steet RA<\/strong>.\u00a0TGF-\u00df Regulates Cathepsin Activation during Normal and Pathogenic Development.\u00a0<\/a>Cell Rep.\u00a02018 Mar 13;22(11):2964-2977.\u00a0doi: 10.1016\/j.celrep.2018.02.066.\u00a0PubMed PMID: 29539424; PubMed Central PMCID: PMC6247414.\r\n\r\nAarnio-Peterson M, Zhao P, Yu SH, Christian C, Flanagan-Steet H, Wells L, Steet R<\/strong>.\u00a0Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.\u00a0<\/a>J Biol Chem.\u00a02017 Sep 8;292(36):15094-15104.\u00a0doi: 10.1074\/jbc.M117.790139.\u00a0Epub 2017 Jul 19.\u00a0PubMed PMID: 28724630; PubMed Central PMCID: PMC5592684.\r\n\r\nBerger RP, Dookwah M, Steet R<\/strong>, Dalton S.\u00a0Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.\u00a0<\/a>Bioessays.\u00a02016 Dec;38(12):1255-1265.\u00a0doi: 10.1002\/bies.201600138.\u00a0Epub 2016 Sep 26.\u00a0Review.\u00a0PubMed PMID: 27667795; PubMed Central PMCID: PMC5214967.\r\n\r\nSun T, Yu SH, Zhao P, Meng L, Moremen KW, Wells L, Steet R<\/strong>, Boons GJ.\u00a0One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.\u00a0<\/a>J Am Chem Soc.\u00a02016 Sep 14;138(36):11575-11582.\u00a0doi: 10.1021\/jacs.6b04049.\u00a0Epub 2016 Sep 1.\u00a0PubMed PMID: 27541995; PubMed Central PMCID: PMC5067740.\r\n\r\nFlanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R<\/strong>.\u00a0Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase \u03b1\u03b2 and \u03b3 subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.\u00a0<\/a>Biochim Biophys Acta.\u00a02016 Sep;1860(9):1845-53.\u00a0doi: 10.1016\/j.bbagen.2016.05.029.\u00a0Epub 2016 May 27.\u00a0PubMed PMID: 27241848; PubMed Central PMCID: PMC4949139.\r\n\r\nFlanagan-Steet H, Aarnio M, Kwan B, Guihard P, Petrey A, Haskins M, Blanchard F, Steet R<\/strong>.\u00a0Cathepsin-Mediated Alterations in TGF\u00df-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.\u00a0<\/a>J Bone Miner Res.\u00a02016 Mar;31(3):535-48.\u00a0doi: 10.1002\/jbmr.2722.\u00a0Epub 2015 Oct 13.\u00a0PubMed PMID: 26404503; PubMed Central PMCID: PMC4808492.\r\n\r\nYu SH, Zhao P, Sun T, Gao Z, Moremen KW, Boons GJ, Wells L, Steet R<\/strong>.\u00a0Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.\u00a0<\/a>J Biol Chem.\u00a02016 Feb 19;291(8):3982-9.\u00a0doi: 10.1074\/jbc.M115.700369.\u00a0Epub 2016 Jan 5.\u00a0PubMed PMID: 26733198; PubMed Central PMCID: PMC4759176.\r\n\r\nGurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA<\/strong>, Ruane T, O'Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.\u00a0Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.\u00a0<\/a>Mol Ther.\u00a02016 Feb;24(2):206-216.\u00a0doi: 10.1038\/mt.2015.189.\u00a0Epub 2015 Oct 8.\u00a0PubMed PMID: 26447927; PubMed Central PMCID: PMC4817811.\r\n\r\nHan SO, Pope R, Li S, Kishnani PS, Steet R<\/strong>, Koeberl DD.\u00a0A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.\u00a0<\/a>Mol Genet Metab.\u00a02016 Feb;117(2):114-9.\u00a0doi: 10.1016\/j.ymgme.2015.09.012.\u00a0Epub 2015 Oct 3.\u00a0PubMed PMID: 26454691; PubMed Central PMCID: PMC4755835.\r\n\r\nSutton DA, Yu SH, Steet R,<\/strong> Popik VV.\u00a0Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking.\u00a0<\/a>Chem Commun (Camb).\u00a02016 Jan 11;52(3):553-6.\u00a0doi: 10.1039\/c5cc08106h.\u00a0Epub 2015 Nov 5.\u00a0PubMed PMID: 26538499; PubMed Central PMCID: PMC4689622.","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[12],"tags":[],"class_list":["post-970","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-faculty"],"_links":{"self":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/posts\/970","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/comments?post=970"}],"version-history":[{"count":0,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/posts\/970\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/media\/971"}],"wp:attachment":[{"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/media?parent=970"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/categories?post=970"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/scienceweb.clemson.edu\/ihg\/wp-json\/wp\/v2\/tags?post=970"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}