Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Conclusion: This study shows that the molecular modeling approach can contribute to evaluating the pathogenicity of some missense variants that affect dimerization. However, in silico studies - aimed to assess the relationship between structural change and biological effects - require the integrated use of more than 1 tool.
PMID: 20564000 [PubMed - as supplied by publisher] (Source: Journal of Nephrology)