http://www.cnr.it/ontology/cnr/individuo/prodotto/ID281101
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
- 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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