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Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
Natascha Schaefer, Christoph J Kluck, Kerry L Price, Heike Meiselbach, Nadine Vornberger, Stephan Schwarzinger, Stephanie Hartmann, Georg Langlhofer, Solveig Schulz, Nadja Schlegel, Knut Brockmann, Bryan Lynch, Cord-Michael Becker, Sarah CR Lummis, Carmen Villmann
OAI: oai:www.repository.cam.ac.uk:1810/250434
Abstract
assembly biogenesis glycine receptor human hyperekplexia rescue of function subcompartimentalization Amino Acid Sequence Animals COS Cells Child Chlorocebus aethiops Endoplasmic Reticulum Female Golgi Apparatus HEK293 Cells Humans Infant Intracellular Space Male Mice Molecular Sequence Data Neurons Pedigree Protein Structure Secondary Protein Structure Tertiary Receptors Glycine Stiff-Person Syndrome