Article
Type 2 diabetes-associated single nucleotide polymorphism in Sorcs1 gene results in alternative processing of the Sorcs1 protein in INS1 β-cells.
Scientific reports - 19 Dec 2019
Yau Belinda, Blood Zachary, An Yousun, Su Zhiduan, Kebede Melkam A
Abstract excerpt
A threonine-to-Isoleucine (Thr52Ile) mutation within the pro-domain of the Sorcs1 gene was positionally cloned as the gene underlying a quantitative trait locus that affects fasting insulin levels in mice. In humans, genome-wide association studies and linkage studies have shown that SORCS1 is associated with diabetes and all of diabetes complications. We have recently shown that deletion of Sorcs1 in mice made...
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