検索結果 - Heather Flanagan‐Steet

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  1. 1
    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

    Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosoma... 著者: Yi Qian, Eline van Meel, Heather Flanagan‐Steet, Alex Yox, Richard Steet, Stuart Kornfeld

    出版事項 2014
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    Artigo
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  2. 2
    Loss of FGF Receptor 1 Signaling Reduces Skeletal Muscle Mass and Disrupts Myofiber Organization in the Developing Limb

    Loss of FGF Receptor 1 Signaling Reduces Skeletal Muscle Mass and Disrupts Myofiber Organization in the Developing Limb 著者: Heather Flanagan‐Steet, Kevin Hannon, Michael J. McAvoy, Ronald L. Hullinger, Bradley B. Olwin

    出版事項 2000
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    Artigo
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  3. 3
    A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency

    A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency 著者: Abigail Cline, Ningguo Gao, Heather Flanagan‐Steet, Vandana Sharma, S. M. A. Rosa, R.N. Sonon, Parastoo Azadi, Kirsten C. Sadler, Hudson H. Freeze, Mark A. Lehrman, Richard Steet

    出版事項 2012
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    Artigo
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  4. 4
    A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

    A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation 著者: Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan‐Steet, Chin‐Fu Chen, Fan Xiang, Frank Bartel, Marharyta Petukh, Ayla R Pittman, Robert A. Saul, Alka Chaubey, Emil Alexov, Michael Tiemeyer, Richard Steet, Charles E. Schwartz

    出版事項 2013
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    Artigo
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  5. 5
    Tracer metabolomics reveals the role of aldose reductase in glycosylation

    Tracer metabolomics reveals the role of aldose reductase in glycosylation 著者: Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes‐Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew C. Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamás Kozicz, Heather Flanagan‐Steet, Bart Ghesquière, Éva Morava

    出版事項 2023
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    Artigo
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