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 Lettjournal_title
Neuroscience lettersauthors
Hirano M,Nishiwaki T,Kariya S,Furiya Y,Kawahara M,Ueno Sdoi
10.1016/j.neulet.2004.05.034keywords:
subject
Has Abstractpub_date
2004-08-12 00:00:00pages
120-5issue
2eissn
0304-3940issn
1872-7972pii
S0304394004006020journal_volume
366pub_type
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