Fibrillin-1 Regulates Arteriole Integrity in the Retina [PDF]
Biomolecules, 2022 Fibrillin-1 is an extracellular matrix protein that assembles into microfibrils that provide critical functions in large blood vessels and other tissues.
Florian Alonso +4 more
doaj +3 more sources
The extracellular matrix glycoprotein fibrillin-1 in health and disease [PDF]
Frontiers in Cell and Developmental Biology, 2023 Fibrillin-1 (FBN1) is a large, cysteine-rich, calcium binding extracellular matrix glycoprotein encoded by FBN1 gene. It serves as a structural component of microfibrils and provides force-bearing mechanical support in elastic and nonelastic connective ...
Li Li +5 more
doaj +3 more sources
Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1 [PDF]
Frontiers in Genetics, 2022 Marfan syndrome, an autosomal dominant disorder of connective tissue, is primarily caused by mutations in the fibrillin-1 (FBN1) gene, which encodes the protein fibrillin-1.
Xin Liu +6 more
doaj +3 more sources
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias [PDF]
Frontiers in Genetics, 2021 The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes.
Pauline Arnaud +5 more
doaj +3 more sources
The influence of fibrillin‐1 and physical activity upon tendon tissue morphology and mechanical properties in mice [PDF]
Physiological Reports, 2019 Fibrillin‐1 mutations cause pathological changes in connective tissue that constitute the complex phenotype of Marfan syndrome. In this study, we used fibrillin‐1 hypomorphic and haploinsufficient mice (Fbn1mgr/mgR and Fbn1+/− mice, respectively) to ...
Peter H. T. Tran +9 more
doaj +3 more sources
Fibrillin-1 regulates endothelial sprouting during angiogenesis. [PDF]
Proc Natl Acad Sci U S A, 2023 Significance Mutations in the gene coding for fibrillin-1, a protein in the extracellular matrix, cause Marfan syndrome, which is characterized by pathological changes in large blood vessels. We show that fibrillin-1 regulates angiogenesis, the formation
Alonso F +7 more
europepmc +2 more sources
Nanoscale Structural Comparison of Fibrillin-1 Microfibrils Isolated from Marfan and Non-Marfan Syndrome Human Aorta. [PDF]
Int J Mol Sci, 2023 Fibrillin-1 microfibrils are essential elements of the extracellular matrix serving as a scaffold for the deposition of elastin and endowing connective tissues with tensile strength and elasticity.
Șulea CM +9 more
europepmc +2 more sources
The Multiple Functions of Fibrillin-1 Microfibrils in Organismal Physiology. [PDF]
Int J Mol Sci, 2022 Fibrillin-1 is the major structural component of the 10 nm-diameter microfibrils that confer key physical and mechanical properties to virtually every tissue, alone and together with elastin in the elastic fibers.
Asano K +3 more
europepmc +2 more sources
Succinylation Inhibits the Enzymatic Hydrolysis of the Extracellular Matrix Protein Fibrillin 1 and Promotes Gastric Cancer Progression. [PDF]
Adv Sci (Weinh), 2022 Extracellular matrix (ECM) remodeling is crucial in the regulation of gastric cancer (GC) progression. This work aims to reveal novel posttranslational modifications and their relevant mechanisms in GC. In 3D matrix culture and animal models, it is found
Wang X +7 more
europepmc +2 more sources
Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome. [PDF]
Hum Mol Genet, 2022 A disproportionate tall stature is the most evident manifestation in Marfan syndrome (MFS), a multisystem condition caused by mutations in the extracellular protein and TGFβ modulator, fibrillin-1.
Sedes L +9 more
europepmc +2 more sources