Genetic Protein Misfolding Disorders : Development of new pharmaco - therapeutic strategies
نویسنده
چکیده
In 2002, we had shown that the small molecule 6[R]-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) rescues the biochemical phenotype in a signifi cant share of patients suffering from phenylketonuria (PKU), the most frequent genetic disorder of amino acid metabolism. The project aimed to elucidate the molecular basis of PKU and the mode of action of the small molecule exerting its effect in the presence of several different genotypes. Moreover, we wanted to establish PKU as a model disease for a larger number of disorders showing the molecular phenotype of protein misfolding with loss-of-function potentially correctable by the oral administration of small molecules.
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