| Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation. | Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B, Study Group of GNAO1 patients from Spain. | 11/1/2024 |
| CircGNAO1 suppresses hepatocellular carcinoma progression and metastasis via sponging miR-182-5p and regulating FOXO1 expression. | CircGNAO1 suppresses hepatocellular carcinoma progression and metastasis via sponging miR-182-5p and regulating FOXO1 expression.
Ju L, Luo Y, Shan J, Lu R, Chen L, Shao J, Bian Z, Yao M. | 09/9/2024 |
| AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice. | AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice.
Roy AJ, Leipprandt JR, Patterson JR, Stoll AC, Kemp CJ, Oula ZD, Mola T, Batista AR, Sortwell CE, Sena-Esteves M, Neubig RR. | 08/19/2024 |
| Neomorphic Galphao mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies. | Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP, Koval A, Valnohova J, Kazemzadeh A, Savitsky M, Katanaev VL., Free PMC Article | 08/4/2024 |
| Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. | Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Larasati YA, Solis GP, Koval A, Griffiths ST, Berentsen R, Aukrust I, Lesca G, Chatron N, Ville D, Korff CM, Katanaev VL., Free PMC Article | 11/16/2023 |
| Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders. | Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. | 09/20/2023 |
| Visual Function in Children with GNAO1-Related Encephalopathy. | Visual Function in Children with GNAO1-Related Encephalopathy.
Gambardella ML, Pede E, Orazi L, Leone S, Quintiliani M, Amorelli GM, Petrianni M, Galanti M, Amore F, Musto E, Perulli M, Contaldo I, Veredice C, Mercuri EM, Battaglia DI, Ricci D., Free PMC Article | 04/14/2023 |
| Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa. | Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
Vasconcellos LF, Soares VP, de Ricchezza LL., Free PMC Article | 04/12/2023 |
| G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1. | G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.
Okabe M, Takarada S, Miyao N, Nakaoka H, Ibuki K, Ozawa S, Watanabe K, Tsuji H, Hashimoto I, Hatasaki K, Hayakawa S, Hamaguchi Y, Hamada M, Ichida F, Hirono K., Free PMC Article | 10/8/2022 |
| Highlighting the Dystonic Phenotype Related to GNAO1. | Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M., Free PMC Article | 07/30/2022 |
| GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma. | GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma.
Du M, Feng J, Tao Y, Pan Q, Chen F., Free PMC Article | 03/12/2022 |
| Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype. | Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P. | 08/7/2021 |
| Identification of functional cooperative mutations of GNAO1 in human acute lymphoblastic leukemia. | Identification of functional cooperative mutations of GNAO1 in human acute lymphoblastic leukemia.
Song L, Yu B, Yang Y, Liang J, Zhang Y, Ding L, Wang T, Wan X, Yang X, Tang J, Wang S, Li B, Li Y, Feng H. | 07/24/2021 |
| GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. | GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.
Akamine S, Okuzono S, Yamamoto H, Setoyama D, Sagata N, Ohgidani M, Kato TA, Ishitani T, Kato H, Masuda K, Matsushita Y, Ono H, Ishizaki Y, Sanefuji M, Saitsu H, Matsumoto N, Kang D, Kanba S, Nakabeppu Y, Sakai Y, Ohga S. | 04/24/2021 |
| Structures of the glucocorticoid-bound adhesion receptor GPR97-Go complex. | Structures of the glucocorticoid-bound adhesion receptor GPR97-G(o) complex.
Ping YQ, Mao C, Xiao P, Zhao RJ, Jiang Y, Yang Z, An WT, Shen DD, Yang F, Zhang H, Qu C, Shen Q, Tian C, Li ZJ, Li S, Wang GY, Tao X, Wen X, Zhong YN, Yang J, Yi F, Yu X, Xu HE, Zhang Y, Sun JP. | 03/28/2021 |
| Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation. | Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation.
Pérez-Ramírez M, García-Méndez A, Siordia-Reyes AG, Chavarría A, Gómez C, García-Hernández N. | 11/21/2020 |
| first report of siblings of opposite sex harboring the same GNAO1 mutation but showing differences in phenotype with pronounced dystonia in the boy and epilepsy in his sister. | Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
Schorling DC, Dietel T, Evers C, Hinderhofer K, Korinthenberg R, Ezzo D, Bönnemann CG, Kirschner J. | 07/21/2018 |
| GNAO1 transcription was inhibited by promoter hypermethylation, contributing to its low expression. It was further revealed that the silencing effect was regulated by methyltransferase 1 (DNMT1), and was further enhanced by transforming growth factor beta (TGF-beta). | DNMT1 mediated promoter methylation of GNAO1 in hepatoma carcinoma cells.
Xu D, Du M, Zhang J, Xiong P, Li W, Zhang H, Xiong W, Liu F, Liu J. | 06/9/2018 |
| Taken together, the data presented here suggest that TLR2 activation in human mast cells promotes the release of inflammatory mediators via distinct signaling pathways that partially depend on the action of Go proteins. | Toll-like receptor 2-mediated MAPKs and NF-κB activation requires the GNAO1-dependent pathway in human mast cells.
Jin M, Yu B, Zhang W, Zhang W, Xiao Z, Mao Z, Lai Y, Lin D, Ma Q, Pan E, Zhang Y, Yu Y. | 12/9/2017 |
| Study identified distinct biochemical mechanisms of pathogenic human GNAO1 mutations that may improve the understanding of the heterogeneous clinical spectrum of GNAO1-associated epilepsy and movement disorders. Furthermore, these results also carry significant implications for personalized therapeutics in GNAO1 encephalopathies. | Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.
Feng H, Sjögren B, Karaj B, Shaw V, Gezer A, Neubig RR., Free PMC Article | 08/26/2017 |
| The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. | GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.
Arya R, Spaeth C, Gilbert DL, Leach JL, Holland KD. | 07/29/2017 |
| authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1 | Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
Kulkarni N, Tang S, Bhardwaj R, Bernes S, Grebe TA. | 10/8/2016 |
| Phenotypic spectrum of novel GNAO1 variants in four unrelated female patients included epileptic encephalopathy and involuntary movements with severe developmental delay. | Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N., Free PMC Article | 09/24/2016 |
| GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. The novel pathogenic variant identified in should contribute to our understanding of the expanding spectrum of infantile-onset epilepsy. | Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
Law CY, Chang ST, Cho SY, Yau EK, Ng GS, Fong NC, Lam CW. | 07/30/2016 |
| Endothelial cells in capillary malformations are enriched for GNAQ mutations and are likely responsible for the pathophysiology underlying capillary malformation. | Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.
Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, Bischoff J, Warman ML, Greene AK., Free PMC Article | 04/30/2016 |