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R. Steet · SciRah

Researcher profile · Semantic Scholar

R. Steet

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R. Steet — researcher profile on SciRah

h-index: 29
Works: 85
Citations: 2,564

Most-cited papers

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
Xiao-Huai Wu, R. Steet, O. Bohorov, J. Bakker +5 more
2004Nature Medicine305 citations
Semantic Scholar
The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms
R. Steet, S. Chung, B. Wustman, A. Powe +2 more
2006Proceedings of the National Academy of Sciences of the United States of America219 citations Open access
Semantic Scholar
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
L. Boccuto, K. Aoki, H. Flanagan-Steet, Chin-Fu Chen +10 more
2014Human Molecular Genetics172 citations Open access
Semantic Scholar
Strain-Promoted Alkyne-Azide Cycloadditions (SPAAC) Reveal New Features of Glycoconjugate Biosynthesis
Ngalle Eric Mbua, Jun Guo, M. Wolfert, R. Steet +1 more
2011ChemBioChem156 citations Open access
Semantic Scholar
Selective Exo-Enzymatic Labeling (SEEL) of N-Glycans of Living Cells by Recombinant ST6Gal I
Ngalle Eric Mbua, Xiuru Li, H. Flanagan-Steet, Lu Meng +5 more
2013Angewandte Chemie81 citations Open access
Semantic Scholar
One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells
Tiantian Sun, Seok-Ho Yu, Peng Zhao, Lu Meng +4 more
2016Journal of the American Chemical Society78 citations Open access
Semantic Scholar
Polar Dibenzocyclooctynes for Selective Labeling of Extracellular Glycoconjugates of Living Cells
F. Friscourt, Petr A. Ledin, Ngalle Eric Mbua, H. Flanagan-Steet +3 more
2012Journal of the American Chemical Society78 citations Open access
Semantic Scholar
Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII
B. Gurda, A. de Guilhem de Lataillade, Peter Bell, Yanqing Zhu +16 more
2015Molecular Therapy76 citations Open access
Semantic Scholar
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder
L. Spaapen, J. Bakker, S. B. der Meer, H. J. Sijstermans +3 more
2005Journal of Inherited Metabolic Disease66 citations
Semantic Scholar
COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.
R. Steet, Stuart Kornfeld
2006Molecular Biology of the Cell65 citations Open access
Semantic Scholar
3′-Azidothymidine (Zidovudine) Inhibits Glycosylation and Dramatically Alters Glycosphingolipid Synthesis in Whole Cells at Clinically Relevant Concentrations (*)
Jian-Ping Yan, Diane D. Ilsley, Corinne Frohlick, R. Steet +3 more
1995Journal of Biological Chemistry55 citations Open access
Semantic Scholar
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency
A. Cline, Ningguo Gao, H. Flanagan-Steet, Vandana Sharma +7 more
2012Molecular Biology of the Cell53 citations Open access
Semantic Scholar
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Y. Kondo, Jian-Xin Fu, Hua Wang, Christopher Hoover +20 more
2018JCI Insight52 citations Open access
Semantic Scholar
Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.
H. Flanagan-Steet, Christina M. Sias, R. Steet
2009American Journal of Pathology45 citations Open access
Semantic Scholar
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase.
R. Steet, S. Chung, Wang-Sik Lee, C. Pine +2 more
2007Biochemical Pharmacology45 citations Open access
Semantic Scholar
Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition*
Y. Qian, E. van Meel, H. Flanagan-Steet, Alexander D Yox +2 more
2014Journal of Biological Chemistry43 citations Open access
Semantic Scholar
The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress
C. Phoomak, W. Cui, T. Hayman, Seok-Ho Yu +4 more
2021Science Advances41 citations Open access
Semantic Scholar
Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation*
Seok-Ho Yu, Peng Zhao, Tiantian Sun, Zhongwei Gao +4 more
2016Journal of Biological Chemistry40 citations Open access
Semantic Scholar
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation
J. Chu, A. Mir, Ningguo Gao, S. Rosa +6 more
2012Disease Models & Mechanisms38 citations Open access
Semantic Scholar
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
L. Claus, Chuan Chen, Jennifer L. Stallworth, Joshu Turner +43 more
2023Kidney International36 citations Open access
Semantic Scholar
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module
Y. Qian, H. Flanagan-Steet, E. van Meel, R. Steet +1 more
2013Proceedings of the National Academy of Sciences of the United States of America36 citations Open access
Semantic Scholar
A splicing mutation in the α/β GlcNAc‐1‐phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy
R. Steet, R. Hullin, M. Kudo, Michele Martinelli +4 more
200536 citations
Semantic Scholar
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
Riet Bammens, Nickita Mehta, V. Race, F. Foulquier +5 more
2015Glycobiology35 citations Open access
Semantic Scholar
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
F. Cristofoli, Tonya Moss, H. Moore, K. Devriendt +16 more
2020American Journal of Human Genetics34 citations Open access
Semantic Scholar
Excessive Activity of Cathepsin K is Associated with the Cartilage Defects in a Zebrafish Model For Mucolipidosis II
R. Steet, Aaron C. Petrey, H. Flanagan-Steet, Steven Johnson +1 more
201234 citations Open access
Semantic Scholar
Identification of the Minimal Lysosomal Enzyme Recognition Domain in Cathepsin D*
R. Steet, Wang-Sik Lee, Stuart Kornfeld
2005Journal of Biological Chemistry34 citations Open access
Semantic Scholar
Lysosomal Cholesterol Accumulation Contributes to the Movement Phenotypes Associated with NUS1 Haploinsufficiency
Seok-Ho Yu, Tong Wang, Kali J Wiggins, Raymond J. Louie +10 more
2021Genetics in Medicine33 citations Open access
Semantic Scholar
Abnormal accumulation and recycling of glycoproteins visualized in Niemann–Pick type C cells using the chemical reporter strategy
Ngalle Eric Mbua, H. Flanagan-Steet, Steven Johnson, M. Wolfert +2 more
2013Proceedings of the National Academy of Sciences of the United States of America33 citations Open access
Semantic Scholar
Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing
Elsenoor Klaver, Peng Zhao, M. May, H. Flanagan-Steet +5 more
2019Disease Models & Mechanisms29 citations Open access
Semantic Scholar
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
Brianna M Naumchik, Ashish O. Gupta, H. Flanagan-Steet, R. Steet +3 more
2020Cells26 citations Open access
Semantic Scholar
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, L. Bird, D. Heron, B. Keren +20 more
2021American Journal of Medical Genetics. Part A23 citations Open access
Semantic Scholar
Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism.
Maxwell B. Colonna, Tonya Moss, Sneha S. Mokashi, Sujata Srikanth +12 more
2022Human Molecular Genetics22 citations Open access
Semantic Scholar
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
B. Ng, P. Sosicka, F. Fenaille, A. Harroche +28 more
2021American Journal of Human Genetics22 citations Open access
Semantic Scholar
TGF-β Regulates Cathepsin Activation during Normal and Pathogenic Development
H. Flanagan-Steet, Courtney J. Christian, Po-Nien Lu, Megan Aarnio-Peterson +5 more
2018Cell Reports22 citations Open access
Semantic Scholar
Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders
Ryan P. Berger, M. Dookwah, R. Steet, S. Dalton
2016Bioessays22 citations Open access
Semantic Scholar
Cyclopropenone-caged Sondheimer Diyne (Dibenzo[a,e]cyclooctadiyne): A Photoactivatable Linchpin for Efficient SPAAC Crosslinking
Dewey A Sutton, Seok-Ho Yu, R. Steet, V. Popik
2015Chemical Communications22 citations Open access
Semantic Scholar
Extensive Mannose Phosphorylation on Leukemia Inhibitory Factor (LIF) Controls Its Extracellular Levels by Multiple Mechanisms*
J. Barnes, Jae-Min Lim, A. Godard, F. Blanchard +2 more
2011Journal of Biological Chemistry22 citations Open access
Semantic Scholar
Selective Yolk Deposition and Mannose Phosphorylation of Lysosomal Glycosidases in Zebrafish*
Xiang Fan, M. Klein, H. Flanagan-Steet, R. Steet
2010Journal of Biological Chemistry22 citations Open access
Semantic Scholar
Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting
H. Flanagan-Steet, Megan Aarnio, B. Kwan, Pierre J Guihard +4 more
2015Journal of Bone and Mineral Research21 citations Open access
Semantic Scholar
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome
Addison Neighbors, Tonya Moss, L. Holloway, Seok-Ho Yu +4 more
2020Molecular Genetics & Genomic Medicine20 citations Open access
Semantic Scholar
α-Galactosidase A Expressed in the Salivary Glands Partially Corrects Organ Biochemical Deficits in the Fabry Mouse Through Endocrine Trafficking
M. Passineau, T. Fahrenholz, L. Machen, L. Zourelias +8 more
2011Human Gene Therapy20 citations Open access
Semantic Scholar
A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease
Sang-oh Han, R. Pope, Song-Tao Li, P. Kishnani +2 more
2015Molecular Genetics and Metabolism19 citations Open access
Semantic Scholar
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
R. Steet, R. Hullin, M. Kudo, Michele Martinelli +4 more
2005American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
3'-Azidothymidine potently inhibits the biosynthesis of highly branched N-linked oligosaccharides and poly-N-acetyllactosamine chains in cells.
R. Steet, P. Melançon, R. Kuchta
2000Journal of Biological Chemistry19 citations
Semantic Scholar
Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells
Xian-Zun Tao, Yi Zhu, Zoraida Diaz-Perez, Seok-Ho Yu +5 more
2022JCI Insight18 citations Open access
Semantic Scholar
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain
J. Leroy, D. Sillence, T. Wood, J. Barnes +5 more
2013European Journal of Human Genetics18 citations Open access
Semantic Scholar
“Casting” light on the role of glycosylation during embryonic development: Insights from zebrafish
H. Flanagan-Steet, R. Steet
2012Glycoconjugate Journal17 citations Open access
Semantic Scholar
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
Ryan C. Vignogna, Mariateresa Allocca, M. Monticelli, Joy W. Norris +4 more
2022eLife12 citations Open access
Semantic Scholar
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 Synthase Deficiency variants
M. Dookwah, Shannon Wagner, M. Ishihara, Seok-Ho Yu +8 more
2021bioRxiv12 citations Open access
Semantic Scholar
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Tonya Moss, M. May, H. Flanagan-Steet, R. Caylor +5 more
2021Cold Spring Harbor molecular case studies11 citations Open access
Semantic Scholar

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