Institutions: IBBA CNRhttps://orcid.org/0000-0001-9280-9437
I am trying to establish novel therapeutic avenues to cure a broad spectrum of rare diseases.
Each rare disease patient potentially benefitting from the therapeutic approach I propose carries a missense mutation in a glycoprotein gene. The mutation impairs fold of the mutate glycoprotein but does not abrogate its function (responsive mutation).
My idea is that modulators of Endoplasmic Reticulum glycoprotein folding Quality Control (ERQC) and/or of Endoplasmic Reticulum Associated Degradation ...
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