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Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
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Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
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Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
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The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Fibulins in development and heritable disease.

Mon-Li Chu1, Takeshi Tsuda

  • 1Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Mon-Li.Chu@jefferson.edu

Birth Defects Research. Part C, Embryo Today : Reviews
|April 1, 2004
PubMed
Summary

Fibulins are extracellular glycoproteins crucial for development, particularly in the cardiovascular system. Mutations in fibulin genes are linked to human genetic disorders like cutis laxa, affecting multiple organs.

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Area of Science:

  • Biochemistry
  • Developmental Biology
  • Genetics

Background:

  • Fibulins are extracellular glycoproteins interacting with various supramolecular structures.
  • They are expressed during embryogenesis, especially at sites of epithelial-mesenchymal transformations.
  • The cardiovascular system is a key area for fibulin developmental analysis.

Purpose of the Study:

  • To review the role of fibulins in embryonic development.
  • To emphasize their function in the cardiovascular system.
  • To discuss fibulins' involvement in human genetic diseases.

Main Methods:

  • Review of developmental expression patterns.
  • Analysis of gene targeting studies in mice.
  • Examination of genetic linkage and molecular studies in humans.

Main Results:

  • Fibulins are prominently expressed during embryogenesis, notably in the cardiovascular system.
  • Gene targeting revealed fibulins' biological roles.
  • Fibulin gene mutations are identified in human disorders such as cutis laxa.

Conclusions:

  • Fibulins play significant roles in development, particularly cardiovascular development.
  • Fibulin gene mutations are associated with various human heritable disorders affecting multiple organs.
  • Further research into fibulins is warranted for understanding development and disease.