Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability

Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability

The recruitment of inhibitory GABAA receptors to neuronal synapses requires a complex interplay between receptors, neuroligins, the scaffolding protein gephyrin and the GDP-GTP exchange factor collybistin (CB). Collybistin is regulated by protein-protein interactions at the N-terminal SH3 domain, wh...

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Bibliographic Details
Main Authors: Tzu-Ting Chiou, Philip Long, Alexandra Schumann-Gillett, Venkateswarlu Kanamarlapudi, Stefan A. Haas, Kirsten Harvey, Megan L. O’Mara, Angel L. De Blas, Vera M. Kalscheuer, Robert J. Harvey
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Molecular Neuroscience
Subjects:
ARHGEF9
Collybistin
Gephyrin
PH domain
PI3P
XLID
Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2019.00060/full

Internet

https://www.frontiersin.org/article/10.3389/fnmol.2019.00060/full

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