Search Results - "BELTRAN VALERO DE BERNABE, Daniel"

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome 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

“…Kevin Campbell and colleagues identify mutations in ISPD as a cause of Walker-Warburg syndrome (WWS) using a complementation assay in fibroblasts derived from…”
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Proteomic analysis of plasma membrane and secretory vesicles from human neutrophils by Jethwaney, Deepa, Islam, Md Rafiqul, Leidal, Kevin G, de Bernabe, Daniel Beltran-Valero, Campbell, Kevin P, Nauseef, William M, Gibson, Bradford W

“…Polymorphonuclear neutrophils (PMN) constitute an essential cellular component of innate host defense against microbial invasion and exhibit a wide array of…”
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Functional glycosylation of dystroglycan is crucial for thymocyte development in the mouse by Liou, Li-Ying, Walsh, Kevin B, Vartanian, Arineh R, Beltran-Valero de Bernabe, Daniel, Welch, Megan, Campbell, Kevin P, Oldstone, Michael B A, Kunz, Stefan

“…Alpha-dystroglycan (alpha-DG) is a cell surface receptor providing a molecular link between the extracellular matrix (ECM) and the actin-based cytoskeleton…”
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A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2) by Serratosa, José M., Gómez-Garre, Pilar, Gallardo, Ma Esther, Anta, Berta, de Bernabé, Daniel Beltrán-Valero, Lindhout, Dick, Augustijn, Paul B., Tassinari, Carlo A., Michelucci, Roberto, Malafosse, Alain, Topcu, Meral, Grid, Djamel, Dravet, Charlotte, Berkovic, Samuel F., de Córdoba, Santiago Rodríguez

“…Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy,…”
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Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice by Han, Renzhi, Frett, Ellie M, Levy, Jennifer R, Rader, Erik P, Lueck, John D, Bansal, Dimple, Moore, Steven A, Ng, Rainer, Beltrán-Valero de Bernabé, Daniel, Faulkner, John A, Campbell, Kevin P

“…Mutations in the dysferlin gene underlie a group of autosomal recessive muscle-wasting disorders denoted as dysferlinopathies. Dysferlin has been shown to play…”
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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome by Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.

“…Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye…”
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Loss of LARGE2 Disrupts Functional Glycosylation of α-Dystroglycan in Prostate Cancer by Esser, Alison K., Miller, Michael R., Huang, Qin, Meier, Melissa M., Beltran-Valero de Bernabé, Daniel, Stipp, Christopher S., Campbell, Kevin P., Lynch, Charles F., Smith, Brian J., Cohen, Michael B., Henry, Michael D.

“…Dystroglycan (DG) is a cell surface receptor for extracellular matrix proteins and is involved in cell polarity, matrix organization, and mechanical stability…”
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The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation by Willer, Tobias, Inamori, Kei-Ichiro, Venzke, David, Harvey, Corinne, Morgensen, Greg, Hara, Yuji, Beltrán Valero de Bernabé, Daniel, Yu, Liping, Wright, Kevin M, Campbell, Kevin P

“…Dystroglycan is a cell membrane receptor that organizes the basement membrane by binding ligands in the extracellular matrix. Proper glycosylation of the…”
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A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy by Hara, Yuji, Balci-Hayta, Burcu, Yoshida-Moriguchi, Takako, Kanagawa, Motoi, Beltrán-Valero de Bernabé, Daniel, Gündeşli, Hülya, Willer, Tobias, Satz, Jakob S, Crawford, Robert W, Burden, Steven J, Kunz, Stefan, Oldstone, Michael B.A, Accardi, Alessio, Talim, Beril, Muntoni, Francesco, Topaloğlu, Haluk, Dinçer, Pervin, Campbell, Kevin P

“…A dystroglycan mutation was identified in a patient with limb-girdle muscular dystrophy and cognitive dysfunction. A mouse model with this mutation reproduced…”
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Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing of LARGE by de Bernabé, Daniel Beltrán-Valero, Inamori, Kei-ichiro, Yoshida-Moriguchi, Takako, Weydert, Christine J., Harper, Hollie A., Willer, Tobias, Henry, Michael D., Campbell, Kevin P.

“…The interaction between epithelial cells and the extracellular matrix is crucial for tissue architecture and function and is compromised during cancer…”
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome by VAN REEUWIJK, Jeroen, GREWAL, Prabhjit K, SHAHEED, Mohamed M, ABOMELHA, Abdullah, BRUNNER, Han G, VAN BOKHOVEN, Hans, VOIT, Thomas, SALIH, Mustafa A. M, BELTRAN-VALERO DE BERNABE, Daniel, MCLAUGHLAN, Jenny M, MICHIELSE, Caroline B, HERRMANN, Ralf, HEWITT, Jane E, STEINBRECHER, Alice, SEIDAHMED, Mohamed Z

“…Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result…”
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Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients by van der Zwaag, Bert, Verzijl, Harriette T.F.M., Wichers, Karin H., Beltran-Valero de Bernabe, Daniel, Brunner, Han G., van Bokhoven, Hans, Padberg, George W.

“…Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an…”
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LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans by Inamori, Kei-ichiro, Beedle, Aaron M., de Bernabé, Daniel Beltrán-Valero, Wright, Michael E., Campbell, Kevin P.

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The molecular basis of alkaptonuria by Granadino, Begoña, Fernández-Cañón, José M, De Córdoba, Santiago Rodríguez, De Bernabé, Daniel Beltrán-Valero, Renedo, Mónica, Fernández-Ruiz, Elena, Peñalva, Miguel A

“…Alkaptonuria (AKU) occupies a unique place in the history of human genetics because it was the first disease to be interpreted as a mendelian recessive trait…”
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LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans by Inamori, Kei-Ichiro, Beedle, Aaron M, de Bernabé, Daniel Beltrán-Valero, Wright, Michael E, Campbell, Kevin P

“…Both LARGE1 (formerly LARGE) and its paralog LARGE2 are bifunctional glycosyltransferases with xylosy- and glucuronyltransferase activities, and are capable of…”
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Abstract 421: Dystroglycan glycosylation status predicts Gleason grade and influences prostate tumor growth by Esser, Alison K., Weydert, Christine J., Meier, Melissa M., de Bernabe, Daniel Beltran-Valero, Smith, Brian J., Cohen, Michael B., Campbell, Kevin P., Henry, Michael D.

“…Dystroglycan, an extracellular matrix receptor, is expressed in many tissues including muscle, neural, adipose and epithelial where its function includes roles…”
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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots by ZATKOVA, Andrea, BELTRAN VALERO DE BERNABE, Daniel, POLAKOVA, Helena, ZVARIK, Marek, FERAKOVA, Eva, BOSAK, Vladimir, FERAK, Vladimir, KADASI, Udovit, RODRIGUEZ DE CORDOBA, Santiago

“…Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence…”
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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots by Zatkova, Andrea, de Bernabe, Daniel Beltran Valero, Polakova, Helena, Zvarik, Marek, Ferakova, Eva, Bošak, Vladimir, Ferak, Vladimir, Kadasi, L'udovit, de Cordoba, Santiago Rodriguez

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Mutational analysis of the HGO gene in Finnish alkaptonuria patients by de Bernabé, Daniel Beltrán-Valero, Peterson, Pärt, Luopajärvi, Kristiina, Matintalo, Pirjo, Alho, Antti, Konttinen, Yrjö, Krohn, Kai, de Córdoba, Santiago Rodríguez, Ranki, Annamari

“…Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the…”
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Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing of LARGES by de Bernabé, Daniel Beltrán-Valero, Inamori, Kei-ichiro, Yoshida-Moriguchi, Takako, Weydert, Christine J., Harper, Hollie A., Willer, Tobias, Henry, Michael D., Campbell, Kevin P.

“…The interaction between epithelial cells and the extracellular matrix is crucial for tissue architecture and function and is compromised during cancer…”
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