Severe bleeding disorders such as Haemophilia B are mainly caused by missense mutations that may affect protein folding, thus leading to the production of structurally-altered proteins associated with low or very low circulating levels. The research activity is aimed at characterizing the mechanism underlying the defective intracellular biosynthesis (misfolding), premature degradation and/or stress of the endoplasmic reticulum in cellular models of sever Haemophilia B and to evaluate the effects of small molecules or drugs acting as chemical/pharmacological chaperones in restoring the molecular defect. The general goal is to ameliorate/increase the production of coagulation factors with defective folding/processing to ameliorate the clinical phenotype of patients affected by missense mutations.
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|Titolo:||Improved intracellular processing of protein variants as a personalized therapeutic approach for Haemophilia|
|Data di pubblicazione:||2015|
|???metadata.dc.type.research???:||Locale (anche progetti interni a UNIFE)|
|Appare nelle tipologie:||08.1 Coordinamento Prog.Ricerca Naz. ed Internaz.|