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Dissertation
The Importance of tRNA Modification and SSD1 Status for Protein Homeostasis and Cell Viability
(2022-03)
Chemical modifications of anticodon loop are required to support tRNA function in mRNA decoding and to prevent protein aggregation in the eukaryotic model system Saccharomyces cerevisiae. This work investigates the effects of mutation in the gene encoding the Deg1 pseudouridine synthase. It is known that the mutation of the human DEG1 orthologue PUS3 causes severe neurological and developmental defects, emphasizing the general importance of the modification. However, the exact cellular consequences of deg1/pus3mutation ...
Dissertation
Functional characterization of disease-associated mutations in type I cGMP-dependent protein kinase
(2022-08)
Cardiovascular diseases are the leading cause of death worldwide, and while mainly associated with behavioral risk factors, they can also be linked to genetic disorders. The cGMP-dependent protein kinase type I (PKG I) plays a pivotal role in the homeostasis of the vasculature by mediating NO/cGMP-dependent relaxation of vascular smooth muscle cells. A recently described genetic risk factor associated with PKG I results in heritable thoracic aortic aneurysms and dissections (TAAD). Although PKG isoforms Iα and Iβ ...