Article
The mgΔlpn mouse model for Marfan syndrome recapitulates the ocular phenotypes of the disease.
Experimental eye research - 1 Mar 2021
Souza Rodrigo Barbosa de, Gyuricza Isabela Gerdes, Cassiano Luara Lucena, Farinha-Arcieri Luis Ernesto, Alvim Liberatore Ana Maria, Schuindt do Carmo Sheila, Caldeira Waldir, Cruz Marcio V, Ribeiro Alberto F, Tedesco Roberto Carlos, Reinhardt Dieter P, Smith Ricardo, Jun Koh Ivan Hong, Pereira Lygia V
Abstract excerpt
PURPOSE: Fibrillin-1 and -2 are major components of tissue microfibrils that compose the ciliary zonule and cornea. While mutations in human fibrillin-1 lead to ectopia lentis, a major manifestation of Marfan syndrome (MFS), in mice fibrillin-2 can compensate for reduced/lack of fibrillin-1 and maintain the integrity of ocular structures. Here we examine the consequences of a heterozygous dominant-negative...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.