Pericentrin in health and disease
نویسندگان
چکیده
Researchers around the world perform large-scale screens to identify disease-related gene defects in humans. One of the genes of interest is Pericentrin (PCNT), a gene which codes for a large coiled-coil protein with multiple functions in the cell. Recently, we showed that different Pericentrin (Pcnt) splice variants are differentially distributed among sensory tissues of the mouse, emphasizing the importance of a protein's spliceome for the function of a cell.
منابع مشابه
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, or...
متن کاملPericentrin in health and disease Exploring the patchwork of Pericentrin splice variants
Pcnt, a component of the pericentriolar material (PCM), is a highly conserved protein throughout the animal kingdom up to human. At the centrosomes, Pcnt serves as a multifunctional scaffold for various proteins and protein complexes and has important functions in microtubule organization, cell division, cell cycle progression, assembly of cilia and probably in various other fundamental cellula...
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Pericentrin is a conserved protein of the centrosome involved in microtubule organization. To better understand pericentrin function, we overexpressed the protein in somatic cells and assayed for changes in the composition and function of mitotic spindles and spindle poles. Spindles in pericentrin-overexpressing cells were disorganized and mispositioned, and chromosomes were misaligned and miss...
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The centrosome is important for microtubule organization and cell cycle progression in animal cells. Recently, mutations in the centrosomal protein, pericentrin, have been linked to human microcephalic osteodysplastic primordial dwarfism (MOPD II), a rare genetic disease characterized by severe growth retardation and early onset of type 2 diabetes among other clinical manifestations. While the ...
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The centrosome is important for microtubule organization and cell cycle progression in animal cells. Recently, mutations in the centrosomal protein, pericentrin, have been linked to human microcephalic osteodysplastic primordial dwarfism (MOPD II), a rare genetic disease characterized by severe growth retardation and early onset of type 2 diabetes among other clinical manifestations. While the ...
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2012