173 related articles for article (PubMed ID: 36833246)
1. Phenotypic Assessment of Pathogenic Variants in
Di Rocco M; Galosi S; Follo FC; Lanza E; Folli V; Martire A; Leuzzi V; Martinelli S
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833246
[TBL] [Abstract][Full Text] [Related]
2. Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Di Rocco M; Galosi S; Lanza E; Tosato F; Caprini D; Folli V; Friedman J; Bocchinfuso G; Martire A; Di Schiavi E; Leuzzi V; Martinelli S
Hum Mol Genet; 2022 Mar; 31(6):929-941. PubMed ID: 34622282
[TBL] [Abstract][Full Text] [Related]
3. Mice with
Larrivee CL; Feng H; Quinn JA; Shaw VS; Leipprandt JR; Demireva EY; Xie H; Neubig RR
J Pharmacol Exp Ther; 2020 Apr; 373(1):24-33. PubMed ID: 31907305
[TBL] [Abstract][Full Text] [Related]
4. AAV9-Mediated Intra-Striatal Delivery of
Roy AJ; Leipprandt JR; Patterson JR; Stoll AC; Kemp CJ; Oula ZD; Mola T; Batista AR; Sortwell CE; Sena-Esteves M; Neubig RR
J Pharmacol Exp Ther; 2024 Jun; ():. PubMed ID: 38866563
[TBL] [Abstract][Full Text] [Related]
5. Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.
Wang D; Dao M; Muntean BS; Giles AC; Martemyanov KA; Grill B
Hum Mol Genet; 2022 Feb; 31(4):510-522. PubMed ID: 34508586
[TBL] [Abstract][Full Text] [Related]
6. Movement disorder in
Feng H; Sjögren B; Karaj B; Shaw V; Gezer A; Neubig RR
Neurology; 2017 Aug; 89(8):762-770. PubMed ID: 28747448
[TBL] [Abstract][Full Text] [Related]
7. Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing
Larasati YA; Solis GP; Koval A; Griffiths ST; Berentsen R; Aukrust I; Lesca G; Chatron N; Ville D; Korff CM; Katanaev VL
Cells; 2023 Oct; 12(20):. PubMed ID: 37887313
[TBL] [Abstract][Full Text] [Related]
8. GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.
Solis GP; Larasati YA; Thiel M; Koval A; Koy A; Katanaev VL
Mov Disord; 2024 Mar; 39(3):601-606. PubMed ID: 38358016
[TBL] [Abstract][Full Text] [Related]
9. Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.
Silachev D; Koval A; Savitsky M; Padmasola G; Quairiaux C; Thorel F; Katanaev VL
Acta Neuropathol Commun; 2022 Jan; 10(1):9. PubMed ID: 35090564
[TBL] [Abstract][Full Text] [Related]
10. Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of
Solis GP; Kozhanova TV; Koval A; Zhilina SS; Mescheryakova TI; Abramov AA; Ishmuratov EV; Bolshakova ES; Osipova KV; Ayvazyan SO; Lebon S; Kanivets IV; Pyankov DV; Troccaz S; Silachev DN; Zavadenko NN; Prityko AG; Katanaev VL
Cells; 2021 Oct; 10(10):. PubMed ID: 34685729
[TBL] [Abstract][Full Text] [Related]
11. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Nakamura K; Kodera H; Akita T; Shiina M; Kato M; Hoshino H; Terashima H; Osaka H; Nakamura S; Tohyama J; Kumada T; Furukawa T; Iwata S; Shiihara T; Kubota M; Miyatake S; Koshimizu E; Nishiyama K; Nakashima M; Tsurusaki Y; Miyake N; Hayasaka K; Ogata K; Fukuda A; Matsumoto N; Saitsu H
Am J Hum Genet; 2013 Sep; 93(3):496-505. PubMed ID: 23993195
[TBL] [Abstract][Full Text] [Related]
12. 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;
Mov Disord; 2024 Jun; ():. PubMed ID: 38881224
[TBL] [Abstract][Full Text] [Related]
13. Humanization of
Savitsky M; Solis GP; Kryuchkov M; Katanaev VL
Biomedicines; 2020 Oct; 8(10):. PubMed ID: 33036271
[TBL] [Abstract][Full Text] [Related]
14. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M; Park M; Mihalek I; Rochtus A; Gramm M; Pérez-Palma E; Axeen ET; Hung CY; Olson H; Swanson L; Anselm I; Briere LC; High FA; Sweetser DA; ; Kayani S; Snyder M; Calvert S; Scheffer IE; Yang E; Waugh JL; Lal D; Bodamer O; Poduri A
Epilepsia; 2019 Mar; 60(3):406-418. PubMed ID: 30682224
[TBL] [Abstract][Full Text] [Related]
15. The neural G protein Gαo tagged with GFP at an internal loop is functional in Caenorhabditis elegans.
Kumar S; Olson AC; Koelle MR
G3 (Bethesda); 2021 Aug; 11(8):. PubMed ID: 34003969
[TBL] [Abstract][Full Text] [Related]
16. Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J; Ludlam WG; Junyent Segarra M; Fornaguera Marti M; Balsells S; Muchart J; Čokolić Petrović D; Espinoza I; Ortigoza-Escobar JD; Martemyanov KA;
Ann Neurol; 2023 Nov; 94(5):987-1004. PubMed ID: 37548038
[TBL] [Abstract][Full Text] [Related]
17. A mechanistic review on GNAO1-associated movement disorder.
Feng H; Khalil S; Neubig RR; Sidiropoulos C
Neurobiol Dis; 2018 Aug; 116():131-141. PubMed ID: 29758257
[TBL] [Abstract][Full Text] [Related]
18. In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Koval A; Larasati YA; Savitsky M; Solis GP; Good JM; Quinodoz M; Rivolta C; Superti-Furga A; Katanaev VL
Med; 2023 May; 4(5):311-325.e7. PubMed ID: 37001522
[TBL] [Abstract][Full Text] [Related]
19. Presynaptic Gαo (GOA-1) signals to depress command neuron excitability and allow stretch-dependent modulation of egg laying in Caenorhabditis elegans.
Ravi B; Zhao J; Chaudhry SI; Signorelli R; Bartole M; Kopchock RJ; Guijarro C; Kaplan JM; Kang L; Collins KM
Genetics; 2021 Aug; 218(4):. PubMed ID: 34037773
[TBL] [Abstract][Full Text] [Related]
20. Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP; Koval A; Valnohova J; Kazemzadeh A; Savitsky M; Katanaev VL
J Clin Invest; 2024 Jun; ():. PubMed ID: 38874642
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
