A grant to shine light on GNAO1 mutations
Dr. Jana Valnohova, a post-doctoral researcher in the Katanaev laboratory received a grant from the Bow foundation to shine new light on how different GNAO1 mutations affect the individual action of cells.
GNAO1 mutations cause a broad range of neurological syndromes such as developmental delay, epileptic seizures and motor dysfunctions. As the treatment to cure or ease the condition of the patients is still not available, it is crucial to better understand how the protein encoded by GNAO1 behaves and works inside the cell.
With the grant, scientists will now study the protein encoded by GNAO1 to discover if its localisation either in the Golgi or in the plasma membrane (PM) could lead to different disease manifestations.
Disease manifestations might differ according to the localization in cells of the protein encoded by GNAO1.
Their research might help explain why GNAO1 mutations impact certain patients in such different ways and pave the way towards a better understanding of how various treatment options may help patients.
20 Jul 2021