Humanization of Drosophila Gαo to Model GNAO1 Paediatric Encephalopathies.

ABSTRACT: Several hundred genes have been identified to contribute to epilepsy-the disease affecting 65 million people worldwide. One of these genes is GNAO1 encoding Gαo, the major neuronal α-subunit of heterotrimeric G proteins. An avalanche of dominant de novo mutations in GNAO1 have been recently described in paediatric epileptic patients, suffering, in addition to epilepsy, from motor dysfunction and developmental delay. Although occurring in amino acids conserved from humans to Drosophila, these mutations and their functional consequences have only been poorly analysed at the biochemical or neuronal levels. Adequate animal models to study the molecular aetiology of GNAO1 encephalopathies have also so far been lacking. As the first step towards modeling the disease i

SUBMITTER: Savitsky M 

PROVIDER: S-EPMC7599900 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature