Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pathogenic Gαo Mutants Drive Dominant GPCR Coupling in GNAO1 Encephalopathies.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Jan 2026

Larasati Yonika A, de Meritens Camille Rabesahala, Stoeber Miriam, Katanaev Vladimir L, Solis Gonzalo P

Abstract excerpt

Heterozygous mutations in GNAO1, which encodes the Gαo subunit of heterotrimeric G proteins, cause a spectrum of neurodevelopmental disorders ranging from early-onset epileptic encephalopathy to dystonia. Although the mechanisms underlying disease dominance remain incompletely understood, some functional disruptions in Gαo mutants have been described. Intriguingly, several Gαo variants have been independently...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to GTP-Binding Protein alpha Subunits, Gi-Go

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Mutation

Share to Phosphorylation

Share to Receptors, G-Protein-Coupled

Source

Open in PubMed Open full text

Identifiers

PMID: 41460161
DOI: 10.1096/fj.202503265R
PMCID: PMC12746902

Genes

GNAO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic Gαo Mutants Drive Dominant GPCR Coupling in GNAO1 Encephalopathies.PMID 41460161Read ↗

Visualizing the Dominant GPCR Coupling of Pathogenic Gαo Mutants in <i>GNAO1</i> -Related DisordersSemantic proximity Read ↗

Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.Semantic proximity Read ↗

Ric8 proteins as the neomorphic partners of Gαo in <i>GNAO1</i> encephalopathiesSemantic proximity Read ↗

GoLoco/GPR motif-dependent regulation of Rap1GAP1 by Gαo is disrupted by Gαo encephalopathy variants.Semantic proximity Read ↗

Molecular annotation of G protein variants in a neurological disorder.Semantic proximity Read ↗

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.Semantic proximity Read ↗

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.Semantic proximity Read ↗

Molecular map of GNAO1-related disease phenotypes and reactions to therapySemantic proximity Read ↗

Deciphering the mechanistic basis for the pathological effect of the Gα <sub>o</sub> E246K mutation in neurodevelopmental disorderSemantic proximity Read ↗

A mechanistic review on GNAO1-associated movement disorder.Semantic proximity Read ↗

Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.Semantic proximity Read ↗

Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.