The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents

KEY POINTS: Loss‐of‐function mutations in proteins found at glycinergic synapses, most commonly in the α1 subunit of the glycine receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man. It was recently proposed that the receptors responsible are presynaptic homomeric GlyRs, rat...

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Detalles Bibliográficos
Autores principales: Wu, Zhiyi, Lape, Remigijus, Jopp‐Saile, Lea, O'Callaghan, Benjamin J., Greiner, Timo, Sivilotti, Lucia G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Molecular and Cellular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649747/
https://www.ncbi.nlm.nih.gov/pubmed/32445491
http://dx.doi.org/10.1113/JP279803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649747/
https://www.ncbi.nlm.nih.gov/pubmed/32445491
http://dx.doi.org/10.1113/JP279803

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