Associated Papers
Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.
Larasati YA et al.
Molecular Autism, 2025
Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.
Savitsky M et al.
Science Signaling, 2025
Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction.
Solis GP et al.
Genes & Diseases, 2025
GoLoco/GPR motif-dependent regulation of Rap1GAP1 by Gαo is disrupted by Gαo encephalopathy variants.
Momplaisir NL et al.
The Journal of Biological Chemistry, 2025
Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies.
Larasati YA et al.
Medcomm, 2025
Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.
Plachy L et al.
Endocrine Connections, 2024
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP et al.
The Journal of Clinical Investigation, 2024
GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.
Solis GP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Larasati YA et al.
Cells, 2023
Restoration of the GTPase activity and cellular interactions of Gαo mutants by Zn2+ in GNAO1 encephalopathy models.
Larasati YA et al.
Science Advances, 2022
Probing the mutational landscape of regulators of G protein signaling proteins in cancer.
DiGiacomo V et al.
Science Signaling, 2020
The guanine nucleotide exchange factor RIC8 regulates conidial germination through Gα proteins in Neurospora crassa.
Eaton CJ et al.
Plos One, 2012
Molecular basis of a novel oncogenic mutation in GNAO1.
Garcia-Marcos M et al.
Oncogene, 2011
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