Article

Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site

2022-08-30

Abstract excerpt

<title>Abstract</title> <p>Genetic mutations in fibrillin microfibrils cause serious inherited diseases such as Marfan syndrome (MFS) and Weill-Marchesani syndrome (WMS). These diseases typically show major dysregulation of tissue development and growth, particularly in skeletal long bones, but links between the mutations and the diseases are unknown. In this study, we reveal the detailed cryo-EM structure of nat...

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Literature Corpus work: 2bb3066e-b242-5d88-9569-8021f1f8e075
DOI: 10.21203/rs.3.rs-1171584/v1

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