Výsledky vyhledávání - Tobias Willer

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  1. 1
    Protein O‐mannosylation is crucial for cell wall integrity, septation and viability in fission yeast

    Protein O‐mannosylation is crucial for cell wall integrity, septation and viability in fission yeast Autor Tobias Willer, Martin Brandl, Matthias Sipiczki, Sabine Strahl

    Vydáno 2005
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  2. 2
    Brain and Eye Malformations Resembling Walker–Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast

    Brain and Eye Malformations Resembling Walker–Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast Autor Jakob S. Satz, Rita Barresi, Madeleine Durbeej, Tobias Willer, Amy Turner, Steven A. Moore, Kevin P. Campbell

    Vydáno 2008
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  3. 3
    Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2

    Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2 Autor Kei‐ichiro Inamori, Yuji Hara, Tobias Willer, Mary E. Anderson, Zihan Zhu, Takako Yoshida‐Moriguchi, Kevin P. Campbell

    Vydáno 2012
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  4. 4
    SGK196 Is a Glycosylation-Specific <i>O</i> -Mannose Kinase Required for Dystroglycan Function

    SGK196 Is a Glycosylation-Specific <i>O</i> -Mannose Kinase Required for Dystroglycan Function Autor Takako Yoshida‐Moriguchi, Tobias Willer, Mary E. Anderson, David Venzke, Tamieka Whyte, Francesco Muntoni, Hane Lee, Stanley F. Nelson, Liping Yu, Kevin P. Campbell

    Vydáno 2013
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  5. 5
    Protein O-mannosylation is crucial for E-cadherin–mediated cell adhesion

    Protein O-mannosylation is crucial for E-cadherin–mediated cell adhesion Autor Mark Lommel, Patrick R. Winterhalter, Tobias Willer, Maik Dahlhoff, Marlon R. Schneider, Markus F. Bartels, Ingrid Renner‐Müller, Thomas Ruppert, Eckhard Wolf, Sabine Strahl

    Vydáno 2013
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  6. 6
    Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing of LARGE

    Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing of LARGE Autor Daniel Beltrán-Valero de Bernabé, Kei‐ichiro Inamori, Takako Yoshida‐Moriguchi, Christine J. Weydert, Hollie A. Harper, Tobias Willer, Michael D. Henry, Kevin P. Campbell

    Vydáno 2009
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  7. 7
    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy Autor Amy Yang, Bobby G. Ng, Steven A. Moore, Jeffrey S. Rush, Charles J. Waechter, Kimiyo Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta

    Vydáno 2013
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  8. 8
    The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

    The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation Autor Tobias Willer, Kei‐ichiro Inamori, David Venzke, C. S. Harvey, Greg Morgensen, Yuji Hara, Daniel Beltrán Valero de Bernabé, Liping Yu, Kevin M. Wright, Kevin P. Campbell

    Vydáno 2014
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  9. 9
    <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

    <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation Autor Braden S. Jensen, Tobias Willer, Dimah Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki Stefans, Thomas Winder, Kevin P. Campbell, Steven A. Moore, Katherine D. Mathews

    Vydáno 2015
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  10. 10
    Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification

    Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification Autor Ian Keyzor, Simon Shohet, Jeff Castelli, Sheela Sitaraman, Biliana O. Veleva-Rotse, Jill M. Weimer, Brian W. Fox, Tobias Willer, Steve Tuske, Louise Crathorne, Klara J. Belzar

    Vydáno 2023
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  11. 11
    Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle

    Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle Autor Erik P. Rader, Rolf Turk, Tobias Willer, Daniel Beltrán, Kei‐ichiro Inamori, Taylor A. Peterson, Jeffrey Engle, Sally Prouty, Kiichiro Matsumura, Fumiaki Saito, Mary E. Anderson, Kevin P. Campbell

    Vydáno 2016
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  12. 12
    Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function

    Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function Autor M. Osman Sheikh, Chantelle J. Capicciotti, Lin Liu, Jeremy L. Praissman, Dahai Ding, Daniel G. Mead, Melinda A. Brindley, Tobias Willer, Kevin P. Campbell, Kelley W. Moremen, Lance Wells, Geert‐Jan Boons

    Vydáno 2022
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  13. 13
    Targeted disruption of the Walker–Warburg syndrome gene <i>Pomt1</i> in mouse results in embryonic lethality

    Targeted disruption of the Walker–Warburg syndrome gene <i>Pomt1</i> in mouse results in embryonic lethality Autor Tobias Willer, Belén Prados, Juan Manuel Falcón‐Pérez, Ingrid Renner‐Müller, Gerhard K. H. Przemeck, Mark Lommel, Antonio Coloma, M. Carmen Valero, Martin Hrabě de Angelis, Widmar Tanner, Eckhard Wolf, Sabine Strahl, Jesús Cruces

    Vydáno 2004
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  14. 14
    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene Autor Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot, Tamao Endo, Éliane Chouery, Kevin P. Campbell, André Mégarbané, Pascale Guicheney

    Vydáno 2011
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  15. 15
    The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

    The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition Autor Jeremy L. Praissman, Tobias Willer, M. Osman Sheikh, Ants Toi, David Chitayat, Yung‐Yao Lin, Hane Lee, Stephanie H. Stalnaker, Shuo Wang, Pradeep Kumar Prabhakar, Stanley F. Nelson, Derek L. Stemple, Steven A. Moore, Kelley W. Moremen, Kevin P. Campbell, Lance Wells

    Vydáno 2016
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  16. 16
    Activin A more prominently regulates muscle mass in primates than does GDF8

    Activin A more prominently regulates muscle mass in primates than does GDF8 Autor Esther Latres, Jason Mastaitis, Wen Fury, Lawrence Miloscio, Jesus Trejos, Jeffrey Pangilinan, Haruka Okamoto, Katie Cavino, Erqian Na, Angelos Papatheodorou, Tobias Willer, Yu Bai, Jee Hae Kim, Ashique Rafique, Stephen R. Jaspers, Trevor N. Stitt, Andrew Murphy, George D. Yancopoulos, Jesper Gromada

    Vydáno 2017
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  17. 17
    ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

    ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Autor Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida‐Moriguchi, Daniel Beltrán Valero de Bernabé, David Venzke, Sebahattin Çirak, Harry Schachter, Jiri Vajsar, Thomas Voït, Francesco Muntoni, Andrea S Loder, William B. Dobyns, Thomas Winder, Sabine Strahl, Katherine D. Mathews, Stanley F. Nelson, Steven A. Moore, Kevin P. Campbell

    Vydáno 2012
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  18. 18
    A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

    A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy Autor Yuji Hara, Burcu Balci‐Hayta, Takako Yoshida‐Moriguchi, Motoi Kanagawa, Daniel Beltrán-Valero de Bernabé, Hülya Gündeşli, Tobias Willer, Jakob S. Satz, Robert W. Crawford, Steven J. Burden, Stefan Kunz, Michael B. A. Oldstone, Alessio Accardi, Beril Talim, Francesco Muntoni, Haluk Topaloğlu, Pervin Dinçer, Kevin P. Campbell

    Vydáno 2011
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  19. 19
    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Autor Sebahattin Çirak, A. Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Elizabeth Stevens, Silvia Torelli, Lina Brodd, Alisa Kamynina, Petr Vondráček, Helen Roper, Cheryl Longman, Rudolf Korinthenberg, Gianni Marrosu, Peter Nürnberg, Daniel E. Michele, Vincent Plagnol, Matt Hurles, Steven A. Moore, Caroline A. Sewry, Kevin P. Campbell, Thomas Voït, Francesco Muntoni

    Vydáno 2013
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  20. 20
    Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

    Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Autor Elizabeth Stevens, Keren Carss, Sebahattin Çirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Göknur Haliloğlu, Dıclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew E. Hurles, Kevin P. Campbell, M. Chiara Manzini, Derek L. Stemple, Yung‐Yao Lin, Francesco Muntoni

    Vydáno 2013
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