Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia

Recent studies on the pathogenic mechanisms of recessive hyperekplexia indicate disturbances in glycine receptor (GlyR) α1 biogenesis. Here, we examine the properties of a range of novel glycine receptor mutants identified in human hyperekplexia patients using expression in transfected cell lines an...

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Publié dans:J Neurosci
Auteurs principaux: Schaefer, Natascha, Kluck, Christoph J., Price, Kerry L., Meiselbach, Heike, Vornberger, Nadine, Schwarzinger, Stephan, Hartmann, Stephanie, Langlhofer, Georg, Schulz, Solveig, Schlegel, Nadja, Brockmann, Knut, Lynch, Bryan, Becker, Cord-Michael, Lummis, Sarah C.R., Villmann, Carmen
Format: Artigo
Langue:Inglês
Publié: Society for Neuroscience 2015
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287157/
https://ncbi.nlm.nih.gov/pubmed/25568133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1509-14.2015
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