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  1. Perspective interview - Søren Gersting

    ... Following the award of his PhD in 2003 he joined the Molecular Pediatrics group at the Dr von Hauner Children's Hospital, ... understanding of how BH4 works as a pharmacological chaperone influencing research and the development of potential medicines for ...

  2. PKU Academy Newsletter Summer 2013

    ... (Denmark) considers how current work to understand the molecular chemistry of chaperone therapy in other inborn errors of metabolism (IEM) may be relevant to ...

  3. Differential diagnosis of PKU and BH4 deficiency

    ... activity in the presence of BH4. BH4 appears to be a molecular chaperone to PAH, in that it protects the protein from misfolding during ...

  4. Perspective interview - Niels Gregersen

    Ru Niels Gregersen, Professor of Molecular Medicine at University of Aarhus in Denmark, believes there is a ... the professor. ‘In PKU, the cofactor works as a chemical chaperone and it can enhance the activity of the enzyme but there are other ...

  5. Perspective interview - Harvey Levy (newborn screening)

    ... IEM, converting a disease to a non-disease. Work to develop chaperone therapies for PKU and other diseases would be more successful with a greater understanding of the molecular and biochemical base of the diseases being targeted.' Tailored ...

  6. 5th European Phenylketonuria Group Symposium

    ... functional, but other proteins may not interact. A different chaperone, she said, is required to achieve this. A prize of €4000 was ... Istanbul, Turkey) 3 - Dr Ehud Gazit (Department of Molecular Microbiology and Biotechnology, Tel Aviv University, Tel Aviv, ...

  7. 5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'

    ... Hospital Birmingham, UK Ania Muntau Department of Molecular Pediatrics Dr von Hauner Children's Hospital ... OC1: Structure-function relationship of the pharmacological chaperone tetrahydrobiopterin stabilizing phenylalanine hydroxylase Marta ...

  8. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... ( PAH ). Pharmacological chaperones are compounds of low molecular weight that promote folding by selectively stabilizing the native ... ), which is already on the market, acts as pharmacological chaperone that stabilizes folding the phenylalanine hydroxylase ( PAH ), but ...

  9. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... Departments of Inborn Errors of Metabolism and of Molecular Pediatrics Dr von Hauner Children’s Hospital ... Vargas, Brazil Progress in phenylalanine hydroxylase and chaperone research Aurora Martinez, Norway Current trials for alternative ...