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
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
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
Mutated G proteins as drug targets.
Noorman van der Dussen K et al.
Trends in Pharmacological Sciences, 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
Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1.
Lo Bianco M et al.
Clinical and Experimental Pediatrics, 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
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 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 genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 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
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant.
Falsaperla R et al.
Molecular Diagnosis & Therapy, 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
Molecular annotation of G protein variants in a neurological disorder.
Knight KM et al.
Cell Reports, 2023
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Larasati YA et al.
Cells, 2023
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Novelli M et al.
Parkinsonism & Related Disorders, 2023