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In molecular medicine, for many years, manipulation of disease genes for therapeutic reason has been a major subject. The focus has been on manipulation of gene expression at the level of DNA to change mRNA espression. For reasons of therapeutic feasibility, often expression of mRNA is increased or decreased via viral vectors. However, these strategies rely on resident genetic manipulation and often have unexpected side effects after longer treatment. Therefore, the search for protein therapies, i.e. strategies manipulating the protein expression of a target disease gene has gained attention in bio-medical research. A novel way to manipulate protein expression is to manipulate components of the ribosome, a two subunit molecular ensemble translating mRNAs into proteins. Here, we study a mutation in the LAMB3 gene, encoding a component of a trimeric anchor protein Laminin 322, which links the epidermis and dermis of the skin. LAMB3 R635X harbours a premature termination codon (PTC), which during translation is recognized by the ribosome with concomitant stop of protein synthesis and loss of the protein.

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Gazmend, Temaj
Gazmend Temaj, born on September, 30th 1974 in Prizren/Kosovo. 1994-2002: Bachelor in General Biology, State University "Hasan Prishtina" Prishtina-Kosovo. 2002-2008: Master in Genetics,University of Sarajevo, Faculty of Natural Sciences Bosnia & Herzegovina. 2014-2016: PhD at the Paracelsus Private Medical University of Salzburg.

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