Associated Papers
Pathogenic Gαo Mutants Drive Dominant GPCR Coupling in GNAO1 Encephalopathies.
Larasati YA et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.
Sadiya I et al.
Bba Advances, 2026
Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.
Larasati YA et al.
Molecular Autism, 2025
The GNAO1-B Splice Variant Is the Predominant Isoform in Human Astrocytes and Localizes to Retraction Fibers and Migrasomes.
Volovikov EA et al.
Cells, 2025
Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!
Saxena M et al.
Annals of Indian Academy of Neurology, 2025
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.
Wang T et al.
Epilepsia, 2025
Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction.
Solis GP et al.
Genes & Diseases, 2025
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.
Mei D et al.
Orphanet Journal of Rare Diseases, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Development of an AAV-RNAi strategy to silence the dominant variant GNAO1 c.607G>A linked to encephalopathy.
Lunev EA et al.
Gene Therapy, 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
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.
Shomer I et al.
Molecular Therapy. Nucleic Acids, 2025
The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia.
Chowdhury S et al.
Movement Disorders Clinical Practice, 2025
Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case.
Larasati YA et al.
Med (new York, N.y.), 2025
Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.
Yadav S et al.
Frontiers in Cellular Neuroscience, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 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
Gnao1 is a molecular switch that regulates the Rho signaling pathway in differentiating neurons.
Taira R et al.
Scientific Reports, 2024
Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP et al.
The Journal of Clinical Investigation, 2024
RNA Interference Effectors Selectively Silence the Pathogenic Variant GNAO1 c.607 G > A In Vitro.
Klementieva NV et al.
Nucleic Acid Therapeutics, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties.
Benedetti MC et al.
Heliyon, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024