It has become evident that abnormalities in RNA processing play a fundamental role in multiple human pathologies. This research concentrates on proving new information of biological and pathological functions of multifunctional GLE1 protein, which mediates RNA transport in mammalian cells. I aim at doing this by modeling human GLE1-deficiency, known as lethal congenital contracture syndrome 1 (LCCS1), in mice to facilitate understanding of RNA metabolism in development, physiology, and disease. LCCS1 is a rare embryonic lethal syndrome of the Finnish disease heritage, which causes motoneuron defects but is poorly studied in vivo. The results of my studies tackle not only rare LCCS1 but are also translatable to common diseases with RNA transport contribution, such as Alzheimer's and Parkinson's disease, which are incurable and cause a huge challenge in sustainable health.

2022

2025