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Journal article

Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells.

Abstract:

Friedreich's ataxia (FA) is the most common recessive ataxia, affecting 1-2 in 50,000 Caucasians, and there is currently no effective cure or treatment. FA results from a deficiency of the mitochondrial protein frataxin brought about by a repeat expansion in intron 1 of the FRDA gene. The main areas affected are the central nervous system (particularly the spinocerebellar system) and cardiac tissue. Therapies aimed at alleviating the neurological degeneration have proved unsuccessful to date....

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Publication status:
Published

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Publisher copy:
10.1038/sj.mt.6300021

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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
Journal:
Molecular therapy : the journal of the American Society of Gene Therapy
Volume:
15
Issue:
2
Pages:
248-254
Publication date:
2007-02-01
DOI:
EISSN:
1525-0024
ISSN:
1525-0016
Source identifiers:
114159
Language:
English
Keywords:
Pubs id:
pubs:114159
UUID:
uuid:3c042eeb-2f20-4bc0-9f5c-d28a03ab4cf2
Local pid:
pubs:114159
Deposit date:
2013-11-17

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