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Journal article

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

Abstract:

Friedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), which lead to reduced FXN expression through a mechanism not fully understood. Understanding such mechanism is essential for the identification of novel therapies for FRDA and this can be accelerated by the development of cell models which recapitulate the genomic context of the FXN locus and allow direct comparison of normal and expanded FXN loci with rapid detection of frataxin levels. Here ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddt370

Authors


Lufino, MM More by this author
Németh, AH More by this author
Alegre-Abarrategui, J More by this author
Russell, AJ More by this author
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Journal:
Human molecular genetics
Volume:
22
Issue:
25
Pages:
5173-5187
Publication date:
2013-12-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:d4a1f7b1-675d-4e95-a871-056cccd923ed
Source identifiers:
418256
Local pid:
pubs:418256

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