The use of pharmacological chaperones in rare diseases caused by reduced protein stability
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DOI: 10.1002/pmic.202200222
Abstract: Rare diseases are most often caused by inherited genetic disorders that, after translation, will result in a protein with altered function. Decreased protein stability is the most frequent mechanism associated with a congenital pathogenic missense… read more here.
Keywords: use pharmacological; pharmacological chaperones; protein stability; stability ... See more keywords