Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability-Reference-Cited by-同舟云学术

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

Published:2019-03-12 Issue: Volume:12 Page:
ISSN:1662-5099
Container-title:Frontiers in Molecular Neuroscience
language:
Short-container-title:Front. Mol. Neurosci.

Author:

Chiou Tzu-Ting,Long Philip,Schumann-Gillett Alexandra,Kanamarlapudi Venkateswarlu,Haas Stefan A.,Harvey Kirsten,O’Mara Megan L.,De Blas Angel L.,Kalscheuer Vera M.,Harvey Robert J.

Funder

Medical Research Council

National Institute of Neurological Disorders and Stroke

National Health and Medical Research Council

Publisher

Frontiers Media SA

Subject

Cellular and Molecular Neuroscience,Molecular Biology

Reference56 articles.

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1. Pleckstrin Homology [PH] domain, structure, mechanism, and contribution to human disease;Biomedicine & Pharmacotherapy;2023-09

2. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit;Molecular Psychiatry;2022-02-15

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4. Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder;Human Mutation;2021-03-14

5. Collybistin SH3‐protein isoforms are expressed in the rat brain promoting gephyrin and GABA‐A receptor clustering at GABAergic synapses;Journal of Neurochemistry;2021-01-05