2021
DOI: 10.1371/journal.pone.0248532
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Assembly assay identifies a critical region of human fibrillin-1 required for 10–12 nm diameter microfibril biogenesis

Abstract: The human FBN1 gene encodes fibrillin-1 (FBN1); the main component of the 10–12 nm diameter extracellular matrix microfibrils. Marfan syndrome (MFS) is a common inherited connective tissue disorder, caused by FBN1 mutations. It features a wide spectrum of disease severity, from mild cases to the lethal neonatal form (nMFS), that is yet to be explained at the molecular level. Mutations associated with nMFS generally affect a region of FBN1 between domains TB3-cbEGF18—the "neonatal region". To gain insight into … Show more

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Cited by 5 publications
(1 citation statement)
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“…Fibrillin-1 is an important glycoprotein that forms microfibrils 10 , 11 . Mutations in the FBN1 gene decrease the availability of fibrillin-1 or alters its structure, interfering with proper microfibril formation 12 , 13 . Fibrillin-1 acts as a scaffold for elastic fiber formation, although microfibrils also occur independently of elastic fibers 14 .…”
Section: Introductionmentioning
confidence: 99%
“…Fibrillin-1 is an important glycoprotein that forms microfibrils 10 , 11 . Mutations in the FBN1 gene decrease the availability of fibrillin-1 or alters its structure, interfering with proper microfibril formation 12 , 13 . Fibrillin-1 acts as a scaffold for elastic fiber formation, although microfibrils also occur independently of elastic fibers 14 .…”
Section: Introductionmentioning
confidence: 99%