Cellular characterisation of GNAO1 mutations leading to encephalopathy syndrome

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Mutations in GNAO1, a gene that encodes a G protein involved in cell signaling, have been identified as contributing factors to different neurological syndromes. Research focuses on understanding molecular mechanisms and their consequences on brain cells. The researchers used various techniques, including molecular biology and microscopy, to study the effects of GNAO1 mutations on cells. These mutations have been associated with changes in intracellular signaling that affect neuronal regulation and brain function. Cell-based models allow these changes to be studied in detail.