Pediatric GNAO1 encephalopathies: from molecular etiology of the disease to drug discovery
Author:
Publisher
Medknow
Subject
Developmental Neuroscience
Reference13 articles.
1. Axeen E, Bell E, Robichaux Viehoever A, Schreiber JM, Sidiropoulos C, Goodkin HP (2021) Results of the first GNAO1-related neurodevelopmental disorders caregiver survey. Pediatr Neurol 121:28-32.
2. Katanaev VL, Ponzielli R, Semeriva M, Tomlinson A (2005) Trimeric G protein-dependent frizzled signaling in Drosophila. Cell 120:111-122.
3. Larasati Y, Savitsky M, Koval A, Solis GP, Valnohova J, Katanaev VL (2022) Restoration of the GTPase activity and cellular interactions of Gαo mutants by Zn2+ in GNAO1 encephalopathy models. Sci Adv 8:eabn9350.
4. Larrivee CL, Feng H, Quinn JA, Shaw VS, Leipprandt JR, Demireva EY, Xie H, Neubig RR (2020) Mice with GNAO1 R209H movement disorder variant display hyperlocomotion alleviated by risperidone. J Pharmacol Exp Ther 373:24-33.
5. Muntean BS, Masuho I, Dao M, Sutton LP, Zucca S, Iwamoto H, Patil DN, Wang D, Birnbaumer L, Blakely RD, Grill B, Martemyanov KA (2021) Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders. Cell Rep 34:108718.
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