Article

Age of diabetes onset in the mutant proinsulin syndrome correlates with mutational impairment of protein foldability and stability

2021-09-25

Abstract excerpt

Diverse heterozygous mutations in the human insulin gene cause a monogenic diabetes mellitus (DM) syndrome due to toxic misfolding of the variant proinsulin. Whereas mutations that add or remove cysteines (thereby leading to an odd number of thiol groups) generally lead to neonatal-onset DM, non-Cys-related mutations can be associated with a broad range of ages of onset. Here, we compare two mutations at a conserv...

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Literature Corpus work: 2f631e7f-81ac-5179-a38d-f2ae96b50972
DOI: 10.1101/2021.09.24.461687

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