“Elongator mutation in mice induces neurodegeneration and ataxia-like behavior” – is a title of the new study published in the Nature Communication by our group. The publication is a result of a collaboration with the group of Prof. Brandon Wainwright from the Institute for Molecular Bioscience (Brisbane, Australia). The study reports a link between ataxias and a single point mutation in one of the Elongator genes. Discovery of the molecular basis of progressive neuronal degeneration has helped to find a genetic cause for this cerebellar ataxia. The study was conducted in the newly established mouse model. The single point mutation causes destabilization of the cellular proteins, which are necessary for proper neuronal function. We hope, that our study will help with slowing down the progression of neurological degeneration commonly occurring in Alzheimer’s and Parkinsons’s disease.
You can find and read the whole paper here -> https://www.nature.com/articles/s41467-018-05765-6