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Article

Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding.

Scientific reports - 8 Oct 2020

Haller Stephen J, Roitberg Adrian E, Dudley Andrew T

Abstract excerpt

Marfan syndrome (MFS) is a highly variable genetic connective tissue disorder caused by mutations in the calcium binding extracellular matrix glycoprotein fibrillin-1. Patients with the most severe form of MFS (neonatal MFS; nMFS) tend to have mutations that cluster in an internal region of fibrillin-1 called the neonatal region. This region is predominantly composed of eight calcium-binding epidermal growth...

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Identifiers

PMID: 33033378
DOI: 10.1038/s41598-020-73969-2
PMCID: PMC7545174

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