Search Results - "Ramsden, Sarah L."

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability by Proos, Anne, Gécz, Jozef, Hackett, Anna, Ramsden, Sarah L, Shoubridge, Cheryl, Gardner, Alison, Stratton, Michael R, Harvey, Robert J, Raymond, F Lucy, Field, Michael, Murphy, Jessica A, Puusepp, Helen, Schwartz, Charles E, Shaw, Marie, Turner, Gill, Abidi, Fatima, Walikonis, Randall S, Futreal, P Andrew, Tarpey, Patrick S, Stevenson, Roger E, Rujirabanjerd, Sinitdhorn, Boyle, Jackie

“…The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine…”
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Duplicated Gephyrin Genes Showing Distinct Tissue Distribution and Alternative Splicing Patterns Mediate Molybdenum Cofactor Biosynthesis, Glycine Receptor Clustering, and Escape Behavior in Zebrafish by Ogino, Kazutoyo, Ramsden, Sarah L., Keib, Natalie, Schwarz, Günter, Harvey, Robert J., Hirata, Hiromi

“…Gephyrin mediates the postsynaptic clustering of glycine receptors (GlyRs) and GABAA receptors at inhibitory synapses and molybdenum-dependent enzyme…”
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Molecular Basis of the γ-Aminobutyric Acid A Receptor α3 Subunit Interaction with the Clustering Protein Gephyrin by Tretter, Verena, Kerschner, Bernd, Milenkovic, Ivan, Ramsden, Sarah L., Ramerstorfer, Joachim, Saiepour, Leila, Maric, Hans-Michael, Moss, Stephen J., Schindelin, Hermann, Harvey, Robert J., Sieghart, Werner, Harvey, Kirsten

“…The multifunctional scaffolding protein gephyrin is a key player in the formation of the postsynaptic scaffold at inhibitory synapses, clustering both…”
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Glycine Receptor Complex Analysis Using Immunoprecipitation‐Blue Native Gel Electrophoresis‐Mass Spectrometry by Spek, Sophie J. F., Koopmans, Frank, Paliukhovich, Iryna, Ramsden, Sarah L., Harvey, Kirsten, Harvey, Robert J., Smit, August B., Li, Ka Wan

“…The pentameric glycine receptor (GlyR), comprising the α1 and β subunits, is a major inhibitory ionotropic receptor in brainstem and spinal cord. GlyRs…”
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