Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome.

By E. Neptune, P. Frischmeyer, Dan E. Arking, Loretha A Myers, T. Bunton, B. Gayraud, F. Ramirez, L. Sakai, H. Dietz. Nature Genetics, 2003

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Targeting TGF-β signal transduction for fibrosis and cancer therapy (2022, background): “Fibrillin 1 can function as an inhibitor of TGF-β signaling, but whether it works more directly in controlling the fibrillin-LTBP interaction or stability suppress latent LLC proteolytic activation still needs to be explored [21, 22].”
Preparing for the First Breath: Genetic and Cellular Mechanisms in Lung Development (2010, background): “These may function in part by specifically binding and acting as a “sink” for growth factors (such as Tgfβ) required for coordinating development (Neptune et al., 2003).”
ADAMTS proteins as modulators of microfibril formation and function (2015, background): “In mice recapitulating a MFS-causing FBN1 mutation, dysregulation (excess) of TGFβ signaling contributed to the pathology of aortic aneurysm and pulmonary emphysema [52,53].”