Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.

Maria Paola BelfioreFrancesca IacobellisEmma AcamporaMartina CaiazzaMarta RubinoEmanuele MondaMaria Rosaria MagaldiAntonietta TaralloMarcella SassoValeria De PasqualeRoberto GrassiSalvatore CappabiancaPaolo CalabròSimona FecarottaSalvatore EspositoGiovanni EspositoAntonio PisaniLuigi Michele PavoneGiancarlo ParentiGiuseppe Limongelli

Published in: PloS one (2020)

We evaluated for the first time the aortic diameters in 3 LSD mouse models and identified different aortopathy patterns, in concordance with recent human findings. Our results are relevant in view of using KO mouse models for efficiently testing the efficacy of new therapies on distinct cardiovascular aspects of LSDs.

Keyphrases

mouse model
replacement therapy
aortic valve
endothelial cells
late onset
smoking cessation
pulmonary artery
induced pluripotent stem cells
pluripotent stem cells
coronary artery
atrial fibrillation
pulmonary hypertension
hypertrophic cardiomyopathy