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E. (Elena) Perenthaler




The development of the cerebral cortex is a complex and dynamic process. Alterations in this process can result in neurodevelopmental disorders (NDD), a common cause of developmental delay, intellectual disability and epilepsy. As many genetic NDDs remain unexplained by current genetic technologies, patients in whom no disease-causing mutation has been identified likely harbor mutations in under-investigated regulatory regions such as enhancers. My research concerns the study of the non-coding genome in gene regulation both in physiological and pathological settings, dissecting how alterations in enhancers can lead to NDDs.

Education and career

  • Postgraduate Erasmus+ internship. University of Edinburgh (Jan - Jul 2017): During this project I investigated the variability of Survival Motor Neuron (SMN) protein levels during development and in different tissues of Spinal Muscular Atrophy (SMA) mouse models.
  • MSc in Cellular and Molecular Biotechnology - Neurobiology study track. University of Trento (Oct 2014 - Oct 2016): During my thesis project I studied the translational defects in early symptomatic SMA and the role of SMN in translation regulation.
  • B.Sc in Biomolecular Sciences and Technology. University of Trento (Sep 2011 - Sep 2014): My thesis-project was focused on the study of the RNA binding protein CELF3 in translation regulation and neurites outgrowth.

My Groups