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Pericentrin in cellular function and disease

2009; Rockefeller University Press; Volume: 188; Issue: 2 Linguagem: Inglês

10.1083/jcb.200908114

1540-8140

Bénédicte Delaval, Stephen Doxsey,

Genetics and Neurodevelopmental Disorders

Pericentrin is an integral component of the centrosome that serves as a multifunctional scaffold for anchoring numerous proteins and protein complexes. Through these interactions, pericentrin contributes to a diversity of fundamental cellular processes. Recent studies link pericentrin to a growing list of human disorders. Studies on pericentrin at the cellular, molecular, and, more recently, organismal level, provide a platform for generating models to elucidate the etiology of these disorders. Although the complexity of phenotypes associated with pericentrin-mediated disorders is somewhat daunting, insights into the cellular basis of disease are beginning to come into focus. In this review, we focus on human conditions associated with loss or elevation of pericentrin and propose cellular and molecular models that might explain them.