Search Results - "Roberds, S"

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex by Davis, Peter E., Kapur, Kush, Filip‐Dhima, Rajna, Trowbridge, Sara K., Little, Elaina, Wilson, Andrew, Leuchter, Andrew, Bebin, Elizabeth M., Krueger, Darcy, Northrup, Hope, Wu, Joyce Y., Sahin, Mustafa, Peters, Jurriaan M., Warfield, S, Peters, J, Goyal, M, Dies, K, Bruns, S, Hanson, E, Bing, N, Kent, B, O'Kelley, S, William, M, Pearson, D, Murray, D, Cutter, G, Roberds, S, Scherrer, B

“…Objective To identify whether abnormal electroencephalography (EEG) connectivity is present before the onset of epileptic spasms (ES) in infants with tuberous…”
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BACE knockout mice are healthy despite lacking the primary β-secretase activity in brain: implications for Alzheimer's disease therapeutics by ROBERDS, Steven L, ANDERSON, John, JOHNSON-WOOD, Kelly, KAPPENMAN, Karl E, KAWABE, Thomas T, KOLA, Ismail, KUEHN, Ralf, LEE, Michael, LIU, Weiqun, MOTTER, Ruth, NICHOLS, Nanette F, POWER, Michael, BASI, Guriqbal, ROBERTSON, David W, SCHENK, Dale, SCHOOR, Michael, SHOPP, George M, SHUCK, Mary E, SINHA, Sukanto, SVENSSON, Kjell A, TATSUNO, Gwen, TINTRUP, Hartmut, WIJSMAN, John, BIENKOWSKI, Michael J, WRIGHT, Sarah, MCCONLOGUE, Lisa, BRANSTETTER, Daniel G, CHEN, Karen S, FREEDMAN, Stephen B, FRIGON, Normand L, GAMES, Dora, KANG HU

“…Alzheimer's disease (AD) is a neurodegenerative disorder characterized by accumulation of amyloid plaques and neurofibrillary tangles in the brain. The major…”
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Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin) by ROBERDS, S. L, ANDERSON, R. D, IBRAGHIMOV-BESKROVNAYA, O, CAMPBELL, K. P

“…The 50-kDa dystrophin-associated glycoprotein (50-DAG) is a component of the dystrophin-glycoprotein complex, which links the muscle cytoskeleton to the…”
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Cloning and Tissue-Specific Expression of Five Voltage-Gated Potassium Channel cDNAs Expressed in Rat Heart by Roberds, Steven L., Tamkun, Michael M.

“…Five distinct K+channel cDNA molecules (RK1 to RK5) were cloned from either rat heart or rat aorta cDNA libraries. Four of the channels, RK1 to RK4, are…”
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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity by Piccolo, F, Chaouch, M, Jeanpierre, M, Romero, N.B, Campbell, K.P, Voit, T, Kaplan, J-C, El Kerch, F, Collin, H, Roberds, S.L, Eymard, B, Fardeau, M, Leturcq, F, Beckmann, J.S, Sefiani, A, Tomé, F.M.S, Azibi, K, Récan, D, Reghis, A, Merlini, L, Beldjord, C, Carrié, A

“…Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive…”
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Heteromultimeric Assembly of Human Potassium Channels Molecular Basis of a Transient Outward Current? by Po, S, Roberds, S, Snyders, D J, Tamkun, M M, Bennett, P B

“…To gain insight into the molecular basis of cardiac repolarization, we have expressed K channels cloned from ventricular myocardium in Xenopus oocytes. A…”
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Time-, voltage-, and state-dependent block by quinidine of a cloned human cardiac potassium channel by Snyders, J, Knoth, K M, Roberds, S L, Tamkun, M M

“…The interaction of quinidine with a cloned human cardiac potassium channel (HK2) expressed in a stable mouse L cell line was studied using the whole-cell…”
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Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord by Olsen, Mary K., Roberds, Steven L., Ellerbrock, Brenda R., Fleck, Timothy J., McKinley, Denise K., Gurney, Mark E.

“…Mutations of copper,zinc‐superoxide dismutase (cu,zn SOD) are found in patients with a familial form of amyotrophic lateral sclerosis. When expressed in…”
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A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering by Campanelli, J T, Roberds, S L, Campbell, K P, Scheller, R H

“…Synapse formation is characterized by the accumulation of molecules at the site of contact between pre- and postsynaptic cells. Agrin, a protein implicated in…”
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Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster by ROBERDS, S. L, ERVASTI, J. M, ANDERSON, R. D, OHLENDIECK, K, KAHL, S. D, ZOLOTO, D, CAMPBELL, K. P

“…Cardiomyopathies are a diverse group of primary cardiac diseases, most of which have a poorly understood etiology. One type of hereditary cardiomyopathy is…”
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Clustering and Immobilization of Acetylcholine Receptors by the 43-kD Protein: A Possible Role for Dystrophin-Related Protein by Phillips, William D., Noakes, Peter G., Roberds, Steven L., Campbell, Kevin P., Merlie, John P.

“…Recombinant acetylcholine receptors (AChRs) expressed on the surface of cultured fibroblasts become organized into discrete membrane domains when the 43-kD…”
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A cluster of novel serotonin receptor 3-like genes on human chromosome 3 by Karnovsky, Alla M., Gotow, Lisa F., McKinley, Denise D., Piechan, Julie L., Ruble, Cara L., Mills, Cynthia J., Schellin, Kathleen A.B., Slightom, Jerry L., Fitzgerald, Laura R., Benjamin, Christopher W., Roberds, Steven L.

“…The ligand-gated ion channel family includes receptors for serotonin (5-hydroxytryptamine, 5-HT), acetylcholine, GABA, and glutamate. Drugs targeting subtypes…”
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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy by Roberds, S L, Leturcq, F, Allamand, V, Piccolo, F, Jeanpierre, M, Anderson, R D, Lim, L E, Lee, J C, Tomé, F M, Romero, N B

“…Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular…”
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A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy by Bueno, M R, Moreira, E S, Vainzof, M, Chamberlain, J, Marie, S K, Pereira, L, Akiyama, J, Roberds, S L, Campbell, K P, Zatz, M

“…Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability,…”
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Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex by Apel, Elizabeth D., Roberds, Steven L., Campbell, Kevin P., Merlie, John P.

“…The 43 kDa AChR-associated protein rapsyn is required for the clustering of nicotinic acetylcholine receptors (AChRs) at the developing neuromuscular junction,…”
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Non-Muscle α-Dystroglycan Is Involved in Epithelial Development by Durbeej, Madeleine, Larsson, Erik, Ibraghimov-Beskrovnaya, Oxana, Roberds, Steven L., Campbell, Kevin P., Ekblom, Peter

“…The dystroglycan complex is a transmembrane linkage between the cytoskeleton and the basement membrane in muscle. One of the components of the complex,…”
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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants by Davis, Peter E, Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M, Au, Kit Sing, Northrup, Hope, Bebin, E Martina, Wu, Joyce Y, Krueger, Darcy, Sahin, Mustafa

“…Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be…”
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Highly degenerate, inosine-containing primers specifically amplify rare cDNA using the polymerase chain reaction by KNOTH, K, ROBERDS, S, POTEET, C, TAMKUN, M

“…Highly degenerate oligonucleotide primers constructed from corresponding amino acid sequence are shown to be useful in the polymerase chain reaction (PCR)…”
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Ultrastructural localization of adhalin, alpha-dystroglycan and merosin in normal and dystrophic muscle by Cullen, M J, Walsh, J, Roberds, S L, Campbell, K P

“…Adhalin and alpha-dystroglycan are two components of a complex of proteins that, in conjunction with dystrophin, provide a link between the subsarcolemmal…”
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Functional characterization of RK5, a voltage-gated K + channel cloned from the rat cardiovascular system by Blair, T.Ann, Roberds, Steven L., Tamkun, Michael M., Hartshorne, Robert P.

“…A voltage-sensitive K + channel previously cloned from rat heart designated RK5 (rat Kv4.2) (Roberds and Tamkun, 1991, Proc. Natl. Acad. Sci. USA 88,…”
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