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Related Concept Videos

Microtubules in Signaling01:22

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The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
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Microtubules are thick hollow cylindrical proteins that help form the cytoskeleton. Microtubules have varied roles in the cell. These filaments help form cellular appendages like cilia and flagella, which are responsible for locomotion. The cilia arise from basal bodies, separated from the main body by a membrane-like structure forming the transition zone. This zone is the gate for the entry of lipids and proteins, creating a unique composition of lipids and proteins in the ciliary membrane and...
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Filopodia are thin, actin-rich cellular protrusions that play an important role in many fundamental cellular functions. They vary in their occurrence, length, and positioning in different cell types, suggesting their diverse roles.
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Vesicles incorporate different coat protein subunits in different cell locations, which changes the properties of the coat, such as the shape and geometry of the transport vesicles. Thus, vesicle coat proteins also play a significant role in cargo selection.
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Updated: May 1, 2026

Simple Detection of Primary Cilia by Immunofluorescence
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CEP290 and the primary cilium.

Theodore G Drivas1, Jean Bennett

  • 1Cell and Molecular Biology Department, 404 Anatomy and Chemistry, University of Pennsylvania Perelman School of Medicine, 3620 Hamilton Walk, 19104, Philadelphia, PA, USA, tdrivas@mail.med.upenn.edu.

Advances in Experimental Medicine and Biology
|March 26, 2014
PubMed
Summary
This summary is machine-generated.

Centrosomal protein CEP290 is crucial for primary cilium function and linked to Leber congenital amaurosis. Understanding CEP290

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Area of Science:

  • Cell Biology
  • Genetics
  • Ophthalmology

Background:

  • CEP290 is a key protein in primary cilium biology.
  • It localizes to the ciliary transition zone and regulates transport.
  • CEP290 mutations cause syndromic diseases, including Leber congenital amaurosis.

Purpose of the Study:

  • To explore the diverse aspects of CEP290 biology and pathology.
  • To link molecular mechanisms of CEP290 function with CEP290-associated diseases.
  • To elucidate how CEP290 mutations lead to human disease phenotypes.

Main Methods:

  • Review of existing literature on CEP290.
  • Analysis of CEP290's role in ciliary transport.
  • Correlation of CEP290 molecular function with disease pathology.

Main Results:

  • CEP290 is essential for ciliary function and transport.
  • Mutations in CEP290 are causative for several human diseases.
  • The precise mechanisms linking CEP290 mutations to disease phenotypes are still under investigation.

Conclusions:

  • Further research into CEP290's molecular function is needed.
  • Understanding CEP290 biology will illuminate disease mechanisms.
  • CEP290 is a critical target for understanding and potentially treating related genetic disorders.