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

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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Bibliographic Details
Main Authors: Inken Piro, Anna-Lena Eckes, Vikram Babu Kasaragod, Claudia Sommer, Robert J. Harvey, Natascha Schaefer, Carmen Villmann
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Molecular Neuroscience
Subjects:
GLRB
glycine receptor
hyperekplexia
startle disease
gephyrin
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2021.745275/full

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