Rosa Scala

Multiple ABCC8 Loss-of-Function Mutations Associated with Paradoxical Maturity-Onset Diabetes of the Young.

ARTICLE HIGHLIGHTS The effects of 16 ABCC8 variants, previously reported in heterozygous association with maturity-onset diabetes of the young (MODY), some with prior diagnosis of hypersinulinism, were assessed in recombinant Kir6.2/SUR1 KATP channels. Thirteen of 16 variants cause loss-of-function, 3 of 16 have no eff...