Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Abstract:

:Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is one of the most common forms of autosomal recessive cerebellar ataxia. We identified six new alternative transcripts produced by the aprataxin gene responsible for EAOH. Total eight transcripts encoded truncated proteins that were located within the nucleus or cytoplasm and showed different binding abilities to wild-type (WT) aprataxin. Thus, the alternative splicing increases the molecular diversity of aprataxin and the expression profiles of these transcripts in various tissues may be related to the tissue-specific phenotypes.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Hirano M,Nishiwaki T,Kariya S,Furiya Y,Kawahara M,Ueno S

doi

10.1016/j.neulet.2004.05.034

keywords:

subject

Has Abstract

pub_date

2004-08-12 00:00:00

pages

120-5

issue

2

eissn

0304-3940

issn

1872-7972

pii

S0304394004006020

journal_volume

366

pub_type

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