We have recently generated a model mouse of chorea-acanthocytosis (ChAc), which carries a targeted deletion mutation in the mouse VPS13A gene corresponding to a human disease mutation. Although these model mice exhibited a normal life span, they begin to display a disease phenotype with red cell acanthocytosis and behavioral abnormalities in old age. Neuropathological examination reveals prominent apoptotic neuronal cells and astrogliosis in the striatum. These are thought to be very similar to the features of the disease course and neuropathology seen in ChAc patients. Thus, this model mouse may be useful for pathogenic studies related to ChAc. Here, we review the ChAc-model mouse and recent findings on the upregulation of gephyrin and its related proteins in ChAcmodel mouse striatum.
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Nakamura, M. et al. (2008). A Mouse Model of Chorea-Acanthocytosis. In: Walker, R.H., Saiki, S., Danek, A. (eds) Neuroacanthocytosis Syndromes II. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-71693-8_12
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DOI: https://doi.org/10.1007/978-3-540-71693-8_12
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