Publications by authors named "Meitav Sasi"
Hum Mol Genet
October 2015
Article Synopsis
- - GBE1 is crucial for making glycogen more soluble by creating branches in glucose chains, and mutations in the GBE1 gene can cause glycogen storage disorders like GSDIV and APBD.
- - Researchers crystallized GBE1 and discovered its structure reveals the active site for branching and the mutation sites linked to the diseases, as well as a binding area that may help with glycogen attachment.
- - A specific mutation, p.Y329S, in GBE1 leads to protein misfolding, but a designed tetra-peptide showed promise in stabilizing the mutant protein and enhancing its activity, paving the way for potential new treatments.
