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

Genetic mutations in fibrillin microfibrils cause serious inherited diseases, such as Marfan syndrome 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...

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Detalles Bibliográficos
Autores principales: Godwin, Alan R. F., Dajani, Rana, Zhang, Xinyang, Thomson, Jennifer, Holmes, David F., Adamo, Christin S., Sengle, Gerhard, Sherratt, Michael J., Roseman, Alan M., Baldock, Clair
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191836/
https://www.ncbi.nlm.nih.gov/pubmed/37081316
http://dx.doi.org/10.1038/s41594-023-00950-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191836/
https://www.ncbi.nlm.nih.gov/pubmed/37081316
http://dx.doi.org/10.1038/s41594-023-00950-8

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