Thermodynamics for rare diseases (Abstract/Poster in convegno)

Type
Label
  • Thermodynamics for rare diseases (Abstract/Poster in convegno) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Alternative label
  • Giuseppina Andreotti (1), Angelita Poziello (1), Maria Vittoria Cubellis (2,3) (2014)
    Thermodynamics for rare diseases
    in 10th International Conference on Protein Stabilization, Stresa, 7-9 maggio 2014
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Giuseppina Andreotti (1), Angelita Poziello (1), Maria Vittoria Cubellis (2,3) (literal)
Note
  • Poster (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1 Institute of Biomolecular Chemistry - CNR, Pozzuoli - Naples 2 Department of Biology, University \"Federico II\", Naples 3 Institute of Biostructure and Bioimaging - CNR, Naples (literal)
Titolo
  • Thermodynamics for rare diseases (literal)
Abstract
  • A good share of all the mutations associated with human diseases cause mild protein destabilization. Drugs known as \"pharmacological chaperones\" can stabilize these mutants and rescue their activity. Given a gene, some mutations respond, others do not. Usually compounds that can stabilize mutants, stabilize the wild type protein too. We apply this approach to Fabry disease, Pompe disease and to PMM2-CDG, a disorder of glysosilation with no cure at present. (literal)
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