| First Author | Kurano Y | Year | 2006 |
| Journal | Biochem Biophys Res Commun | Volume | 351 |
| Issue | 2 | Pages | 438-42 |
| PubMed ID | 17070500 | Mgi Jnum | J:116555 |
| Mgi Id | MGI:3694505 | Doi | 10.1016/j.bbrc.2006.10.070 |
| Citation | Kurano Y, et al. (2006) Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor. Biochem Biophys Res Commun 351(2):438-42 |
| abstractText | Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. Recently, using a gene-targeting technique to delete exons 60-61, we produced a ChAc-model mouse that corresponds to a human disease mutation. In this study, a comparative microarray analysis of gene expression in the striatum revealed an increased level of gephyrin gene expression in the ChAc-model mice compared with wild type mice. Since gephyrin is known as a GABA(A) receptor-anchoring protein, we compared the protein-level expression and localization of gephyrin and the GABA(A) receptor alpha1 (GABRA1) and gamma2 (GABRG2) subunits. Gephyrin and GABRG2 immunoreactivities in the striatum and hippocampus of the ChAc-model mice were significantly higher than those in the wild types. Our results suggest that chorein functional loss may lead to a compensatory upregulation of gephyrin and GABRG2 in the pathologic condition in ChAc. |
