2026 GNAO1 Conference (Day 1, Session 16) - Taanisha Gupta, PhD Candidate
Bow Foundation
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2026 GNAO1 Conference (Day 1, Session 16) - Taanisha Gupta, PhD Candidate
15 просмотров · 10 дней назад
Bow Foundation
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15 просмотров · 10 дней назад
Beyond Canonical Gi/o Signalling: New Mechanisms in GNAO1-Related Neurological Disease
Taanisha Gupta, PhD Candidate
Charité – Universitätsmedizin Berlin, Germany
Pathogenic variants in GNAO1, encoding the Gαo subunit of heterotrimeric Go proteins,
cause a severe neurodevelopmental disorder characterized by early-onset epilepsy and/or hyperkinetic movement disorders. We recently identified a biochemical interaction between wild-type GNAO1 and the small GTPase HRas, and we have demonstrated that GNAO1 can enhance Ras–MAPK signalling in a cell-based assay. Defective Ras-MAPK signaling has been linked – via human genetic studies – to severe neurodevelopmental seizure disorders; Ras signaling is also recognized for its importance in the regulation of synaptic transmission and plasticity. This previously unrecognized convergence of signaling cascades suggests that GNAO1 may link GPCR activity to Ras-dependent pathways that regulate neuronal excitability and network development, thereby providing potential mechanistic data that is relevant for patients with GNAO1 defects.
Taanisha Gupta is a PhD candidate at Charité – Universitätsmedizin Berlin under the supervision of Sarah Shoichet, with a background in neuroscience. Her research focuses on understanding how genetic changes shape brain function, with a particular interest in rare genetic disorders and the development of improved treatments. Outside of research, she is an avid reader and enjoys traveling to explore new cultures and perspectives, experiences that continue to inspire her work and scientific curiosity.