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  1. Supporting Rare Disease Research with the 2020 BeHEARD Awards

    Type
    Blog Post
    Published
    Sept. 8, 2020, 2 p.m.
    ...there have been thirty GNB1 missense variants identified from 58 individuals with GNB1 disorder since the ...Congratulations Siddharth Prakash! Terry Hébert: How GNB1 mutations affect signaling pathways G protein-coupled...membrane. Germline mutations in one of these parts, the GNB1 gene, which codes for G𝛃1 subunits of G protein...in 2016. The lab aims to “expand our knowledge of GNB1 disorder by understanding affected signaling pathways...iPSC-derived cortical neurons from patients with GNB1 mutations, the lab hopes to capture the signalosome...,” says Hébert. Previous research has shown that GNB1 mutations lead to increased activity of the AKT,...
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