Cargando…
Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease
Functional impairments or trafficking defects of inhibitory glycine receptors (GlyRs) have been linked to human hyperekplexia/startle disease and autism spectrum disorders. We found that a lack of synaptic integration of GlyRs, together with disrupted receptor function, is responsible for a lethal s...
Autores principales: | Schaefer, Natascha, Berger, Alexandra, van Brederode, Johannes, Zheng, Fang, Zhang, Yan, Leacock, Sophie, Littau, Laura, Jablonka, Sibylle, Malhotra, Sony, Topf, Maya, Winter, Friederike, Davydova, Daria, Lynch, Joseph W., Paige, Christopher J., Alzheimer, Christian, Harvey, Robert J., Villmann, Carmen |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society for Neuroscience
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559766/ https://www.ncbi.nlm.nih.gov/pubmed/28724750 http://dx.doi.org/10.1523/JNEUROSCI.0009-17.2017 |
Ejemplares similares
-
Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease
por: Schaefer, Natascha, et al.
Publicado: (2018) -
Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease
por: Piro, Inken, et al.
Publicado: (2021) -
Startle Disease: New Molecular Insights into an Old Neurological Disorder
por: Schaefer, Natascha, et al.
Publicado: (2022) -
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
por: James, Victoria M., et al.
Publicado: (2013) -
Impaired Glycine Receptor Trafficking in Neurological Diseases
por: Schaefer, Natascha, et al.
Publicado: (2018)