Results 21 to 30 of about 10,140 (168)
Stem Cell Research, 2023 Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein.
Jeffrey Aalders +7 more
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Frontiers in Cardiovascular Medicine, 2021 Medial deterioration leading to thoracic aortic aneurysms arises from multiple causes, chief among them mutations to the gene that encodes fibrillin-1 and leads to Marfan syndrome.
Cristina Cavinato +7 more
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Processing of the Fibrillin-1 Carboxyl-terminal Domain [PDF]
Journal of Biological Chemistry, 1999 To investigate the processing and general properties of the fibrillin-1 carboxyl-terminal domain, three protein expression constructs have been developed as follows: one without the domain, one with the domain, and one with a mutation near the putative proteolytic processing site.
T M, Ritty +4 more
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Fibrillin-1 Misfolding and Disease
Antioxidants & Redox Signaling, 2006 Fibrillin-1 is a 350 kDa calcium-binding protein which assembles to form 10-12 nm microfibrils in the extracellular matrix (ECM). The structure of fibrillin-1 is dominated by two types of disulfide-rich motifs, the calcium- binding epidermal growth factor-like (cbEGF) and transforming growth factor beta binding protein-like (TB) domains.
Whiteman, P, Hutchinson, S, Handford, P
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Effects of Fibrillin-1 Degradation on Microfibril Ultrastructure [PDF]
Journal of Biological Chemistry, 2007 Current models of the elastic properties and structural organization of fibrillin-containing microfibrils are based primarily on microscopic analyses of microfibrils liberated from connective tissues after digestion with crude collagenase. Results presented here demonstrate that this digestion resulted in the cleavage of fibrillin-1 and loss of ...
Chiu-Liang, Kuo +7 more
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BMC Cardiovascular Disorders, 2020 Background Elderly patients have a relatively high cardiovascular risk due to increased arterial stiffness, elevated blood pressure and decreased amounts of elastin in the arteries.
Ida Åström Malm +4 more
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ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation [PDF]
Journal of Biological Chemistry, 2010 ADAMTS (A disintegrin and metalloproteinase with thrombospondin motifs)-like (ADAMTSL) proteins, a subgroup of the ADAMTS superfamily, share several domains with ADAMTS proteinases, including thrombospondin type I repeats, a cysteine-rich domain, and an ADAMTS spacer, but lack a catalytic domain.
Tsutsui, Ko +8 more
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"Computational Analysis of the Effect of fbn1 Gene Mutations in the Marfan Syndrome" [PDF]
Iranian Journal of Public Health, 2004 Fibrillin is a large glycoprotein synthesized in the tissues involved in Marfan syndrome, and known to be involved in tissue elasticity. The syndrome is corresponded to fbn1 gene and is characterized by cardiovascular, ocular, and skeletal abnormalities.
H Mohabatkar
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Ca2+-dependent Interface Formation in Fibrillin-1 [PDF]
Journal of Biological Chemistry, 2005 The calcium-binding epidermal growth factor-like (cbEGF) domain is a common structural motif in extracellular and transmembrane proteins. K(d) values for Ca2+ vary from the millimolar to nanomolar range; however the molecular basis for this variation is poorly understood.
Jensen, SA +4 more
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Frontiers in Aging Neuroscience, 2016 Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon.
Betti Giusti, Guglielmina Pepe
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