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Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.

Abstract：

:Mutations in vacuolar protein sorting 13A (VPS13A) gene are responsible for chorea-acanthocytosis (ChAc). We previously determined the full-length sequence and exon-intron structure of mouse VPS13A and generated a ChAc model mouse by using the gene targeting technique. In the process, we found diverse 5' and 3' transcript variants. Since ChAc is a rare neurodegenerative disorder, the mouse model should be useful for investigation of ChAc molecular pathogenesis, and the model's brain specific variants of VPS13A will be indispensable in these investigations. In the present study, we investigated mouse VPS13A transcript variants. We found brain-specific variants of mouse VPS13A, which may be involved in the brain-specific pathology of ChAc. In addition, we identified for the first time mouse VPS13C cDNA sequences and brain-specific variants of VPS13C.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Mizuno E,Nakamura M,Agemura A,Kusumoto A,Ichiba M,Kurano Y,Muroya S,Sano A

doi

10.1016/j.bbrc.2006.12.122

subject

Has Abstract

pub_date

2007-02-23 00:00:00

pages

902-7

issue

4

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(06)02761-6

journal_volume

353

pub_type

杂志文章

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