Recently, three missense mutations in the gene encoding DG, mapped in the alpha-DG N-terminal region, were found to be responsible for hypoglycosylated states, causing congenital diseases of different severity referred as primary dystroglycanopaties. To gain insight on the molecular basis of these disorders, we investigated the crystallographic and solution structures of these pathological point mutants, namely V72I, D109N and T190M. Small Angle X-ray Scattering analysis reveals that these mutations affect the structures in solution, altering the distribution between compact and more elongated conformations.
The molecular basis of alpha-Dystroglycan hypoglycosylation: a crystallographic and SAXS study
Covaceuszach S;Bozzi M;Sciandra F;Brancaccio A;Cassetta A;Lamba;
2016
Abstract
Recently, three missense mutations in the gene encoding DG, mapped in the alpha-DG N-terminal region, were found to be responsible for hypoglycosylated states, causing congenital diseases of different severity referred as primary dystroglycanopaties. To gain insight on the molecular basis of these disorders, we investigated the crystallographic and solution structures of these pathological point mutants, namely V72I, D109N and T190M. Small Angle X-ray Scattering analysis reveals that these mutations affect the structures in solution, altering the distribution between compact and more elongated conformations.File in questo prodotto:
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