Results 21 to 30 of about 1,871 (159)

In Vivo Studies of Mutant Fibrillin-1 Microfibrils [PDF]

Journal of Biological Chemistry, 2010
In humans, mutations in fibrillin-1 result in a variety of genetic disorders with distinct clinical phenotypes. While most of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to clinical features unrelated to Marfan syndrome. Pathogenesis of Marfan syndrome is currently thought to be driven by mechanisms due to
Noe L Charbonneau, Sara F Tufa, Gerhard Sengle   +2 more
exaly   +3 more sources

The Multiple Functions of Fibrillin-1 Microfibrils in Organismal Physiology [PDF]

International Journal of Molecular Sciences, 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. Mutations in fibrillin-1 cause pleiotropic manifestations in Marfan syndrome (MFS), including dissecting thoracic aortic aneurysms ...
Asano, Keiichi, Cantalupo, Anna, Sedes, Lauriane, Ramirez, Francesco   +3 more
openaire   +3 more sources

Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis

Scientific Reports
Aqueous humor (AH) and blood levels of transforming growth factor β (TGFβ) are elevated in idiopathic primary open angle glaucoma (POAG) representing a disease biomarker of unclear status and function.
James C. Tan, MinHee K. Ko, Jeong-Im Woo, Kenneth L. Lu, Jonathan A. Kelber   +4 more
doaj   +2 more sources

Fibrillin-1 Interactions with Heparin [PDF]

Journal of Biological Chemistry, 2005
Fibrillin-1 assembly into microfibrils and elastic fiber formation involves interactions with glycosaminoglycans. We have used BIAcore technology to investigate fibrillin-1 interactions with heparin and with heparin saccharides that are analogous to S ...
Stuart A. Cain, Clair Baldock, John Gallagher, Amanda Morgan, Daniel V. Bax, Anthony S. Weiss, C. Adrian Shuttleworth, Cay M. Kielty   +7 more
openaire   +2 more sources

Macromolecular crowding enhances fibrillin-1 deposition in the extracellular matrix [PDF]

European Cells & Materials, 2022
Biochemical and biophysical factors need consideration when modelling in vivo cellular behaviour using in vitro cell culture systems. One underappreciated factor is the high concentration of macromolecules present in vivo, which is typically not ...
B Satz-Jacobowitz, N Taye, SZ Karoulias, D Hubmacher   +3 more
doaj   +1 more source

The extracellular matrix glycoprotein fibrillin-1 in health and disease

Frontiers in Cell and Developmental Biology
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, Li Li, Junxin Huang, Junxin Huang, Youhua Liu, Youhua Liu   +5 more
doaj   +3 more sources

Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development

eLife, 2022
The embryonic extracellular matrix (ECM) undergoes transition to mature ECM as development progresses, yet few mechanisms ensuring ECM proteostasis during this period are known.
Timothy J Mead, Daniel R Martin, Lauren W Wang, Stuart A Cain, Cagri Gulec, Elisabeth Cahill, Joseph Mauch, Dieter Reinhardt, Cecilia Lo, Clair Baldock, Suneel S Apte   +10 more
doaj   +1 more source

Circulating fibrillin fragment concentrations in patients with and without aortic pathology

JVS - Vascular Science, 2022
Objective: Fragments of fibrillin-1 and fibrillin-2 will be detectable in the plasma of patients with aortic dissections and aneurysms. We sought to determine whether the plasma fibrillin fragment levels (PFFLs) differ between patients with thoracic ...
Eric J. Carlson, PhD, Megan Rushkin, BA, Derek Darby, BA, Trisha Chau, BS, Renee L. Shirley, PhD, Jeff S. King, PhD, Khanh Nguyen, MD, Gregory J. Landry, MD, Gregory L. Moneta, MD, Cherrie Abraham, MD, Lynn Y. Sakai, PhD, Amir F. Azarbal, MD   +11 more
doaj   +1 more source

Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders [PDF]

Journal of Cell Communication and Signaling, 2020
The extracellular matrix microenvironment of adipose tissue is of critical importance for the differentiation, remodeling and function of adipocytes. Fibrillin-1 is one of the main components of microfibrils and a key player in this process. Furin processing of profibrillin-1 results in mature fibrillin-1 and releases the C-terminal propeptide as a ...
Muthu L. Muthu, Dieter P. Reinhardt
openaire   +2 more sources

Role of fibrilins in human cancer: A narrative review

Health Science Reports, 2023
Background Fibrillin is one of the extracellular matrix glycoproteins and participates in forming microfibrils found in many connective tissues. The microfibrils enable the elasticity and stretching properties of the ligaments and support connective ...
Mahsa Mahdizadehi, Marie Saghaeian Jazi, Seyyed Mostafa Mir, Seyyed Mehdi Jafari   +3 more
doaj   +1 more source