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Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylation

18 Mar 2025

Abstract excerpt

Fibrillin-1 (FBN1) is an essential component of the extracellular matrix, forming microfibril bundles that are important for the proper development of elastic tissues found in the aorta and lung, as well as nonelastic tissue found in the eyes and skeleton. Many missense mutations in the FBN1 gene are associated with Marfan syndrome (MFS), a common developmental disorder. FBN1 contains 47 epidermal growth...

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PMID: 40107616
DOI: 10.1016/j.jbc.2025.108411

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