Article
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Human molecular genetics - 21 Mar 2022
Di Rocco Martina, Galosi Serena, Lanza Enrico, Tosato Federica, Caprini Davide, Folli Viola, Friedman Jennifer, Bocchinfuso Gianfranco, Martire Alberto, Di Schiavi Elia, Leuzzi Vincenzo, Martinelli Simone
Abstract excerpt
Dominant GNAO1 mutations cause an emerging group of childhood-onset neurological disorders characterized by developmental delay, intellectual disability, movement disorders, drug-resistant seizures and neurological deterioration. GNAO1 encodes the α-subunit of an inhibitory GTP/GDP-binding protein regulating ion channel activity and neurotransmitter release. The pathogenic mechanisms underlying GNAO1-related...
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