The centrosome in human genetic disease.
The centrosome is an indispensable component of the cell-cycle machinery of eukaryotic cells, and the perturbation of core centrosomal or centrosome-associated proteins is linked to cell-cycle misregulation and cancer. Recent work has expanded our understanding of the functional complexity and importance of this organelle. The centrosomal localization of proteins that are involved in human genetic disease, and the identification of novel centrosome-associated proteins, has shown that numerous, seemingly unrelated, cellular processes can be perturbed by centrosomal dysfunction. Here, we review the mechanistic relationship between human disease phenotypes and the function of the centrosome, and describe some of the newly-appreciated functions of this organelle in animal cells.
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- Ubiquitin
- Proteasome Endopeptidase Complex
- Neurons
- Microtubule-Organizing Center
- Microtubule-Associated Proteins
- Humans
- Genetic Diseases, Inborn
- Developmental Biology
- Ciliary Motility Disorders
- Cilia
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Ubiquitin
- Proteasome Endopeptidase Complex
- Neurons
- Microtubule-Organizing Center
- Microtubule-Associated Proteins
- Humans
- Genetic Diseases, Inborn
- Developmental Biology
- Ciliary Motility Disorders
- Cilia