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Reference: Kang S, et al. (2013) Cell cycle arrest in Batten disease lymphoblast cells. Gene 519(2):245-50

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Abstract

Batten disease is an inherited neurodegenerative disorder caused by a CLN3 gene mutation. Batten disease is characterized by blindness, seizures, cognitive decline, and early death. Although apoptotic cell death is one of the pathological hallmarks of Batten disease, little is known about the regulatory mechanism of apoptosis in this disease. Since the CLN3 gene is suggested to be involved in the cell cycle in a yeast model, we investigated the cell cycle profile and its regulatory factors in lymphoblast cells from Batten disease patients. We found G1/G0 cell cycle arrest in Batten disease cells, with overexpression of p21, sphingosine, glucosylceramide, and sulfatide as possible cell cycle regulators.

Reference Type
Journal Article | Research Support, Non-U.S. Gov't
Authors
Kang S, Kim JB, Heo TH, Kim SJ
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