ODT - THESIS TOPIC: Ágnes Tantos: Structural and functional characterization ...


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Thesis topic proposal

Structural and functional characterization of disease-associated KMT2D mutants

THESIS TOPIC PROPOSAL

Institute: Eötvös Loránd University, Budapest
biology
Doctoral School of Biology

Thesis supervisor: Ágnes Tantos
Location of studies (in Hungarian): Institute of Enzymology, Research Centre for Natural Sciences
Abbreviation of location of studies: ELKH

Description of the research topic:

The goal of the project is the description of the molecular background of a recently described serious genetic disease, caused by point mutations in the 38/39th exons of KMT2D. This region is responsible for RNA binding in the protein. The PhD project focuses on the structural and functional effects of the 11 identified point mutations. Structural studies will be carried out with CD and NMR spectroscopy as well as X-ray crystallography and functional studies will be done in induced pluripotent stem cells.

Required language skills: English
Further requirements:
Advanced molecular biology studies, experience with bacterial expression systems: cloning and purification of recombinant proteins.

Number of students who can be accepted: 1

Deadline for application: 2024-05-31

2024. IV. 17.
ODT ülés
Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).