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Archiv-Übersicht     Angebot Nr. 14780

Angebotsdatum: 12. Januar 2023
Art der Stelle: Diplomarbeit
Fachgebiet: Biologie > Neurobiologie
Titel des Themas: Uncovering the molecular mechanisms of PURA Syndrome

Institut: Institute of structural biology
Frau Sabrina Bacher
Ingolstädter Landstraße 1
85764 München
Tel.:    Fax.:
Bundesland: Bayern
Homepage: http://https://www.helmholtz-munich.de/en/stb/research-groups/niessing-lab
E-Mail Kontakt: mail

A heterozygous mutation in the PURA gene can cause the neurodevelopmental disorder PURA Syndrome. First described in 2014, today there are over 478 diagnosed cases worldwide and the number is constantly increasing. The PURA protein is expressed in every human tissue. Apart from already published detailed structural data, very little is known about the underlying mechanisms that lead to the severe symptoms of PURA Syndrome including neurodevelopmental delay, intellectual disability, hypotonia, and epilepsy.
We at the Institute of Structural Biology at the Helmholtz Center Munich study the structure and cellular function of the PURA protein. Thus, we are trying to understand the molecular consequences of a PURA deficiency in PURA Syndrome patients. We use genetically modified immortalized cell lines and patient specific induced pluripotent stem cells (iPSCs). High-throughput techniques in these cells already gave us first ideas about PURA’s interactome and in which pathways PURA may play a role. These data needs further validation to identify specific molecular mechanisms that cause the severe disorder previously described. Ultimately, we want to provide information that can lead to the development of treatment strategies for PURA Syndrome patients.

Methoden: Cell culture (HeLa-cells, human neural stem cells, iPSCs, patient fibroblasts)
Neuronal differentiation of iPSCs
Molecular cloning
Real-time qPCR and western blotting
Immunofluorescence experiments
Working with different CRISPR/Cas9 systems
Proteome interaction studies
Interpreting and evaluating results
Independent lab work
Anfangsdatum: 12. Februar 2023
Geschätzte Dauer: 6 months
Papers: - Molitor L, Bacher S, Burczyk S, Niessing D. The Molecular Function of PURA and Its Implications in Neurological Diseases. Front Genet. 2021 Mar 11;12:638217. doi: 10.3389/fgene.2021.638217. PMID: 33777106; PMCID: PMC7990775
- Molitor L, Klostermann M, Bacher S et al., 2023 (in press.)
Depletion of the RNA-binding protein PURA triggers changes in posttranscriptional gene regulation and loss of P-bodies.