De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

2013/08/29 by Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita +24 · 31 citations
Biochemistry, Genetics and Molecular Biology · #Receptor Mechanisms and Signaling #Cellular transport and secretion #Protein Kinase Regulation and GTPase Signaling

paper · pdf · doi:10.1016/j.ajhg.2013.07.014

Citations

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• Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies. [europepmc]
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• Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. [europepmc]
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• Humanization of Drosophila Gαo to Model GNAO1 Paediatric Encephalopathies. [europepmc]
• Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. [europepmc]
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• Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory. [europepmc]
• Restoration of the GTPase activity and cellular interactions of Gα o mutants by Zn 2+ in GNAO1 encephalopathy models. [europepmc]
• Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function. [europepmc]
• Molecular annotation of G protein variants in a neurological disorder. [europepmc]