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Aberrant Splicing of CFTR Exon 9


Alternative splicing of pre-mRNAs is tightly regulated and any imbalance can change the outcome of gene expression which often leads to disease. Despite the importance of alternative splicing regulation our knowledge at the molecular level is still in its infancy hampering development of effective therapies. We plan to study the regulatory RNA-protein and protein-protein interaction networks leading to skipping of CFTR exon 9 associated with severe forms of cystic fibrosis. Structure determination of regulatory complexes by NMR spectroscopy in combination with biochemical and functional in vivo studies will be used to deepen our molecular understanding of the regulatory networks governing the proper assembly of mRNAs. With this, we want to reveal the molecular basis of aberrant CFTR exon 9 splicing and lay a rational, structure-function-based foundation for novel approaches to cure diseases.

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Masarykova univerzita
Zerotinovo Namesti 9
601 77 Brno
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 100 000
Administrative Contact
Vladimir Sklenar (Prof.)