INS-gene mutations: from genetics and beta cell biology to clinical disease
M Liu, J Sun, J Cui, W Chen, H Guo, F Barbetti… - Molecular aspects of …, 2015 - Elsevier
A growing list of insulin gene mutations causing a new form of monogenic diabetes has
drawn increasing attention over the past seven years. The mutations have been identified in
the untranslated regions of the insulin gene as well as the coding sequence of preproinsulin
including within the signal peptide, insulin B-chain, C-peptide, insulin A-chain, and the
proteolytic cleavage sites both for signal peptidase and the prohormone convertases. These
mutations affect a variety of different steps of insulin biosynthesis in pancreatic beta cells …
drawn increasing attention over the past seven years. The mutations have been identified in
the untranslated regions of the insulin gene as well as the coding sequence of preproinsulin
including within the signal peptide, insulin B-chain, C-peptide, insulin A-chain, and the
proteolytic cleavage sites both for signal peptidase and the prohormone convertases. These
mutations affect a variety of different steps of insulin biosynthesis in pancreatic beta cells …