GNAO1 antibody
- Known as:
- GNAO1 (anti-)
- Catalog number:
- orb39825
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- GNAO1 antibody
Related genes to: GNAO1 antibody
- Gene:
- GNAO1 NIH gene
- Name:
- G protein subunit alpha o1
- Previous symbol:
- -
- Synonyms:
- G-ALPHA-o
- Chromosome:
- 16q13
- Locus Type:
- gene with protein product
- Date approved:
- 1988-04-24
- Date modifiied:
- 2016-03-03
Related products to: GNAO1 antibody
Related articles to: GNAO1 antibody
- To evaluate time to diagnosis in infants with very early-onset genetic epilepsies, identify contributing factors to diagnostic delay, and assess the impact of a definite diagnosis on clinical management. - Source: PubMed
Publication date: 2026/08/10
Pizzuto ChiaraMorabito ValeriaCarapancea EvelinaCilio Maria Roberta - -related disorders (-RD), caused by variants in encoding the Gαo protein, comprise a broad phenotypic spectrum including movement disorders (MD) and/or epilepsy and are typically associated with developmental delay and intellectual disability. Currently, only symptomatic treatments are available. Zinc can restore guanosine triphosphate hydrolysis and cellular interactions of dysfunctional Gαo. ZINCGNAO1 evaluated the safety and feasibility of oral zinc supplementation in -RD. - Source: PubMed
Publication date: 2026/07/23
Thiel MoritzMartakis KyriakosDuran IbrahimDafsari Hormos SSchiller PetraWeliwitage JithmiHero BarbaraLarasati YonikaKoval AlexeyKatanaev Vladimir LKoy Anne - GNAO1-related disorder is a severe childhood-onset hyperkinetic movement disorder punctuated by life-threatening dyskinetic crises. Small series suggest benefit from bilateral globus pallidus internus deep brain stimulation (GPi-DBS), but optimal timing, patient selection, long-term outcomes, and genotype-specific response remain unclear. We define the clinical impact of GPi-DBS in the largest cohort assembled to date. - Source: PubMed
Publication date: 2026/07/27
Bernardi KaterinaRong JoshNortham Weston TKamińska MargaretHasegawa HarutomoDomínguez-Carral JanaVogt Lindsey MDijk Joke MBeudel MartijnChauvet-Piat ElineSeng Emilie ChanPoulen GaetanMahant NeilGarone GiacomoPauni MicaelaRodríguez JosefinaMunoz-Chesta DanielaJones Hannah FDe la Casa-Fages BeatrizMiranda-Herrero María ConcepciónJennions ElizabethLim Wei KangZea Vera AlonsoMohammad ShekeebSchuurman Rickvan de Pol Laura ARoubertie AgatheIbrahim George MGorodetsky CarolinaThiel MoritzKoy AnneOrtigoza-Escobar Juan DaríoLin Jean-PierreLumsden Daniel EEbrahimi-Fakhari DariusYang Kathryn - The heterotrimeric G proteins are ubiquitous membrane-bound complexes specialized in the transduction of receptor-mediated extracellular signals into intracellular responses. Mutations in the G protein subunit alpha O1 (Gαo), encoded by GNAO1, have been associated with neurodevelopmental disorders characterized by prominent movement disorder with or without epilepsy. The Gnao1[C215Y]/+ mouse model recapitulates key features of the human disease, with a relatively mild phenotype, normal viability and late onset movement abnormalities, detectable in specific motor tasks. Here we report functional alterations in cortical layer V pyramidal neurons from Gnao1[C215Y]/+ mice, with reduction of the inward currents (Ih) and impairment of the GABAB-mediated outward current. We propose an adeno-associated virus (AAV)-based gene therapy aimed at overexpressing the wild-type form of Gαo by intracerebroventricular injection in newborn heterozygous Gnao1[C215Y]/ + mice. Our results demonstrate that overexpression of the wild-type protein mitigates behavioral abnormalities and restores functional neuronal deficits in young adult mice, thereby supporting the development of AAV-mediated gene augmentation strategies to counteract the effects of GNAO1 variants in patients. The potential of gene supplementation therapy is further supported by data from genetically modified C. elegans strains carrying not only the relatively mild C215Y variant but also a panel of goa-1/GNAO1 mutations associated with more severe phenotypes, suggesting a broader potential of this therapeutic strategy. - Source: PubMed
Publication date: 2026/07/21
Cocozza GermanaD'Andrea TizianoDi Rocco MartinaBusdraghi Ludovica MariaChilà GildaLin XingziLanza EnricoCollaud FannyFollo Francesca CBuccheri CleliaFolli ViolaRonzitti GiuseppeScavizzi FerdinandoRaspa MarcelloLeuzzi VincenzoKatanaev Vladimir LGalosi SerenaFucile SergioMartinelli SimoneD'Alessandro GiuseppinaLimatola Cristina - Neuropathologic chewing is an involuntary chewing reflex characterized by repetitive, forceful jaw movements, often leading to self-inflicted oral trauma. This case report aims to describe the dental management of a 13-year-old male with -associated disorder presenting with severe neuropathologic chewing and resulting oral trauma. A novel, custom-designed three-dimensional (3D)-printed intraoral appliance was fabricated to protect the oral tissues. The appliance prevented further self-inflicted injury and supported tissue healing, significantly improving the patient's quality of life. This case highlights the role of personalized dental intervention in managing neuropathologic chewing. It emphasizes the potential of 3D printing as an innovative and effective solution for complex neurogenetic disorders and underscores the importance of interdisciplinary care in pediatric dental management. - Source: PubMed
Publication date: 2026/06/15
Shaji JanakiVarma R BalagopalVarma N K SapnaBabu Eldo