Works matching DE "DYSTROGLYCAN"


Results: 124
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    Loss of Dystroglycan Drives Cellular Senescence via Defective Mitosis-Mediated Genomic Instability.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 4961, doi. 10.3390/ijms21144961
    By:
    • Jimenez-Gutierrez, Guadalupe Elizabeth;
    • Mondragon-Gonzalez, Ricardo;
    • Soto-Ponce, Luz Adriana;
    • Gómez-Monsiváis, Wendy Lilián;
    • García-Aguirre, Ian;
    • Pacheco-Rivera, Ruth Abigail;
    • Suárez-Sánchez, Rocío;
    • Brancaccio, Andrea;
    • Magaña, Jonathan Javier;
    • C.R. Perlingeiro, Rita;
    • Cisneros, Bulmaro
    Publication type:
    Article
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    POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.

    Published in:
    eLife, 2020, p. 1, doi. 10.7554/eLife.61388
    By:
    • S, Ameya;
    • Walimbe;
    • Hidehiko Okuma;
    • Joseph, Soumya;
    • Yang, Tiandi;
    • Takahiro Yonekawa;
    • Hord, Jeffrey M.;
    • Venzke, David;
    • Anderson, Mary E.;
    • Torelli, Silvia;
    • Manzur, Adnan;
    • Devereaux, Megan;
    • Cuellar, Marco;
    • Prouty, Sally;
    • Landa, Saul Ocampo;
    • Liping Yu;
    • Junyu Xiao;
    • Dixon, Jack E.;
    • Muntoni, Francesco;
    • Campbell, Kevin P.
    Publication type:
    Article
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    This Week in The Journal.

    Published in:
    Journal of Neuroscience, 2016, v. 36, n. 40, p. i
    By:
    • Esch, Teresa
    Publication type:
    Article
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    Deletion of astroglial connexins weakens the blood-brain barrier.

    Published in:
    Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 8, p. 1457, doi. 10.1038/jcbfm.2012.45
    By:
    • Ezan, Pascal;
    • André, Pascal;
    • Cisternino, Salvatore;
    • Saubaméa, Bruno;
    • Boulay, Anne-Cécile;
    • Doutremer, Suzette;
    • Thomas, Marie-Annick;
    • Quenech'du, Nicole;
    • Giaume, Christian;
    • Cohen-Salmon, Martine
    Publication type:
    Article
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    Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00288-y
    By:
    • Lesurf, Robert;
    • Said, Abdelrahman;
    • Akinrinade, Oyediran;
    • Breckpot, Jeroen;
    • Delfosse, Kathleen;
    • Liu, Ting;
    • Yao, Roderick;
    • Persad, Gabrielle;
    • McKenna, Fintan;
    • Noche, Ramil R.;
    • Oliveros, Winona;
    • Mattioli, Kaia;
    • Shah, Shreya;
    • Miron, Anastasia;
    • Yang, Qian;
    • Meng, Guoliang;
    • Yue, Michelle Chan Seng;
    • Sung, Wilson W. L.;
    • Thiruvahindrapuram, Bhooma;
    • Lougheed, Jane
    Publication type:
    Article
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    Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
    By:
    • Bello, Luca;
    • Melacini, Paola;
    • Pezzani, Raffaele;
    • D'Amico, Adele;
    • Piva, Luisa;
    • Leonardi, Emanuela;
    • Torella, Annalaura;
    • Soraru, Gianni;
    • Palmieri, Arianna;
    • Smaniotto, Gessica;
    • Gavassini, Bruno F;
    • Vianello, Andrea;
    • Nigro, Vincenzo;
    • Bertini, Enrico;
    • Angelini, Corrado;
    • Tosatto, Silvio C E;
    • Pegoraro, Elena
    Publication type:
    Article
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    Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002427
    By:
    • Lefeber, Dirk J.;
    • de Brouwer, Arjan P. M.;
    • Morava, Eva;
    • Riemersma, Moniek;
    • Schuurs-Hoeijmakers, Janneke H. M.;
    • Absmanner, Birgit;
    • Verrijp, Kiek;
    • den Akker, Willem M. R. van;
    • Huijben, Karin;
    • Steenbergen, Gerry;
    • van Reeuwijk, Jeroen;
    • Jozwiak, Adam;
    • Zucker, Nili;
    • Lorber, Avraham;
    • Lammens, Martin;
    • Knopf, Carlos;
    • van Bokhoven, Hans;
    • Grünewald, Stephanie;
    • Lehle, Ludwig;
    • Kapusta, Livia
    Publication type:
    Article
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    ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
    By:
    • Willer, Tobias;
    • Lee, Hane;
    • Lommel, Mark;
    • Yoshida-Moriguchi, Takako;
    • de Bernabe, Daniel Beltran Valero;
    • Venzke, David;
    • Cirak, Sebahattin;
    • Schachter, Harry;
    • Vajsar, Jiri;
    • Voit, Thomas;
    • Muntoni, Francesco;
    • Loder, Andrea S;
    • Dobyns, William B;
    • Winder, Thomas L;
    • Strahl, Sabine;
    • Mathews, Katherine D;
    • Nelson, Stanley F;
    • Moore, Steven A;
    • Campbell, Kevin P
    Publication type:
    Article
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    Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
    By:
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • Buysse, Karen;
    • Maystadt, Isabelle;
    • van Reeuwijk, Jeroen;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Riemersma, Moniek;
    • Pfundt, Rolph;
    • Vissers, Lisenka E L M;
    • Schraders, Margit;
    • Altunoglu, Umut;
    • Buckley, Michael F;
    • Brunner, Han G;
    • Grisart, Bernard;
    • Zhou, Huiqing;
    • Veltman, Joris A;
    • Gilissen, Christian;
    • Mancini, Grazia M S;
    • Delrée, Paul
    Publication type:
    Article
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