Pericentrin in cellular function and disease.
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.
Delaval
Benedicte
B
Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Doxsey
Stephen J
SJ
D000818:Animals; D000941:Antigens / Q000235:genetics / Q000378:metabolism*; D016923:Cell Death / Q000235:genetics; D018385:Centrosome / Q000378:metabolism* / Q000648:ultrastructure; D004392:Dwarfism / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D001523:Mental Disorders / Q000235:genetics; D008870:Microtubules / Q000235:genetics / Q000378:metabolism*; D008938:Mitosis / Q000235:genetics; D009369:Neoplasms / Q000235:genetics; D008941:Spindle Apparatus / Q000235:genetics / Q000378:metabolism*
D000941:Antigens; C086178:pericentrin