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Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease

Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, encoding glycine receptor (GlyR) α1 and β subunits, which enable fast synaptic inhibitory transmission in the spinal cord and brainstem. The GlyR β subunit is important for synaptic localization via interactions with gep...

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Detalles Bibliográficos
Autores principales: Piro, Inken, Eckes, Anna-Lena, Kasaragod, Vikram Babu, Sommer, Claudia, Harvey, Robert J., Schaefer, Natascha, Villmann, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498107/
https://www.ncbi.nlm.nih.gov/pubmed/34630038
http://dx.doi.org/10.3389/fnmol.2021.745275