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Article

Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor.

Biochemical and biophysical research communications - 15 Dec 2006

Kurano Yutaka, Nakamura Masayuki, Ichiba Mio, Matsuda Mieko, Mizuno Emiko, Kato Maiko, Izumo Shuji, Sano Akira

Abstract excerpt

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...

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Source

Identifiers

PMID: 17070500
DOI: 10.1016/j.bbrc.2006.10.070

Genes

GABRG2
GABRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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