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Intrinsic Disorder In Proteins With Pathogenic Repeat Expansions, April L. Darling, Vladimir N. Uversky
Intrinsic Disorder In Proteins With Pathogenic Repeat Expansions, April L. Darling, Vladimir N. Uversky
Molecular Medicine Faculty Publications
Intrinsically disordered proteins and proteins with intrinsically disordered regions have been shown to be highly prevalent in disease. Furthermore, disease-causing expansions of the regions containing tandem amino acid repeats often push repetitive proteins towards formation of irreversible aggregates. In fact, in disease-relevant proteins, the increased repeat length often positively correlates with the increased aggregation efficiency and the increased disease severity and penetrance, being negatively correlated with the age of disease onset. The major categories of repeat extensions involved in disease include poly-glutamine and poly-alanine homorepeats, which are often times located in the intrinsically disordered regions, as well as repeats in …