Lena Schwarz


Supervisor: Gaia Novarino, IST Austria

Co-Supervisor: Johann Danzl, IST Austria


Start of project: 01.10.2019

Title of the project: Elucidating the functional role of the ubiquitin-proteasome system during neurodevelopment.

Research topic of the student: In the past decades, a major effort has been made to elucidate the genetic causes of autism spectrum disorders (ASD) and related neurodevelopmental conditions. Unfortunately, for the majority of the identified genes, the molecular and cellular functions remain poorly understood. Among the identified ASD genes, there are several genes encoding members of the ubiquitin-proteasome systems (UPS).

Cellular proteostasis - the balance between protein biogenesis and breakdown - is a highly dynamic process and is primarily carried out by the key enzymes of the ubiquitin-proteasome system. Abnormalities in the UPS can lead to accumulation of misfolded or damaged proteins, resulting in an excess of aggregated deposits and subsequently to an imbalance of the system.

However, as there is very little known about this system in the contexyt of ASD, we want to take a deeper look by choosing high-risk ASD candidate genes associated with the ubiquitin-proteasome pathway and investigate the disruptions that occur in the collective process of proteostasis. We are therefore aiming to elucidate the functional role of UPS genes during neurodevelopment, which might be an important step in understanding the pathogenesis of ASD.

Lab rotation projects: Between 10/2018 and 06/2019 3 lab rotations (each 2 months) took place in the course of the IST rotational system.


Link to Publications by Lena Schwarz