Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the <i>FXN</i> gene. The repeat expansion causes gene silencing that results in deficiency of the frataxi...

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Bibliographic Details
Main Authors: Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Molecular Sciences
Subjects:
Friedreich’s ataxia
FRDA
ataxia
GAA repeat interruption
triplet repeat primed PCR
TP PCR
Online Access:https://www.mdpi.com/1422-0067/22/14/7507

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https://www.mdpi.com/1422-0067/22/14/7507

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