Structural Effects of Fibulin 5 Missense Mutations Associated with Age-Related Macular Degeneration and Cutis Laxa

Abstract

The results identified structural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), suggesting that this may also be pathogenic. Although the other AMD-associated mutants showed no gross structural differences, they cannot be excluded as pathogenic by differences outside the scope of this study-for example, disruption of heterointeractions.