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The centrosome in human genetic disease

Katsanis, Nicholas ; Badano, Jose L ; Teslovich, Tanya M

Nature reviews. Genetics, 2005-03, Vol.6 (3), p.194-205 [Periódico revisado por pares]

London: Nature Publishing Group

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Título:
The centrosome in human genetic disease
Autor: Katsanis, Nicholas ; Badano, Jose L ; Teslovich, Tanya M
Assuntos: Animals ; Biological and medical sciences ; Biological Transport ; Cell Movement ; Centrosome - physiology ; Cilia - physiology ; Ciliary Motility Disorders - physiopathology ; Fundamental and applied biological sciences. Psychology ; Genetic Diseases, Inborn - physiopathology ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; Microtubule-Associated Proteins - physiology ; Microtubule-Organizing Center - physiology ; Neurons - physiology ; Proteasome Endopeptidase Complex - metabolism ; Ubiquitin - metabolism
É parte de: Nature reviews. Genetics, 2005-03, Vol.6 (3), p.194-205
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Descrição: 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.
Editor: London: Nature Publishing Group
Idioma: Inglês

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The centrosome in human genetic disease

Katsanis, Nicholas ; Badano, Jose L ; Teslovich, Tanya M

London: Nature Publishing Group

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