Article

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

2022-08-26

Abstract excerpt

Genetic mutations in fibrillin microfibrils cause a range of 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 native fibrillin micr...

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Literature Corpus work: 9ce1aa2d-e69f-5139-a0cc-961f4953134e
DOI: 10.1101/2022.08.26.505362

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