Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. [PDF]
PLoS ONE, 2012 The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature.
Stuart A Cain +4 more
doaj +1 more source
Microscopic Anatomy of the Lining of Hemal Spaces in the Penaeid Shrimp, Sicyonia ingentis
Journal of Marine Science and Engineering, 2021 The purpose of this paper is to present a morphological description of three different types of acellular material lining hemal spaces in a shrimp, providing a background for addressing future questions.
Rachel Brittany Sidebottom +2 more
doaj +1 more source
Proteomic analysis of the bovine and human ciliary zonule [PDF]
, 2016 PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven +3 more
core +2 more sources
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
Characteristics of the tomato chromoplast revealed by proteomic analysis [PDF]
, 2010 Chromoplasts are non-photosynthetic specialized plastids that are important in ripening tomato fruit (Solanum lycopersicum) since, among other functions, they are the site of accumulation of coloured compounds.
Barsan, Cristina +9 more
core +3 more sources
When proteomics reveals unsuspected roles: the plastoglobule example
Frontiers in Plant Science, 2013 Plastoglobules are globular compartments found in plastids. Before initial proteomic studies were published, these particles were often viewed as passive lipid droplets whose unique role was to store lipids coming from the thylakoid turn-over, or to ...
Claire eBréhélin, Houda eNacir
doaj +1 more source
The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancers. [PDF]
, 2014 G-protein coupled receptors (GPCRs) are among the most diverse and ubiquitous proteins in all of biology. The epidermal growth factor-seven span transmembrane (EGF-TM7) subfamily of adhesion GPCRs is a small subset whose members are mainly expressed on ...
Bloch, Orin +8 more
core +2 more sources
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 +1 more source
Elastic fiber assembly is disrupted by excessive accumulation of chondroitin sulfate in the human dermal fibrotic disease, keloid [PDF]
, 2009 Keloid is a fibrotic disease characterized by abnormal accumulation of extracellular matrix in the dermis. The keloid matrix contains excess collagen and glycosaminoglycans (GAGs), but lacks elastic fiber. However, the roles of these matrix components in
Ikeda, Mika +10 more
core +1 more source
Disease Models & Mechanisms, 2019 Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones +2 more
doaj +1 more source