Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients

• Main Authors: Salehi, Mohammad Hossein, Kamalidehghan, Behnam, Houshmand, Massoud, Goh, Yong Meng, Sadeghizadeh, Majid, Aryani, Omid, Nafissi, Shahriar
• Format: Article
• Language: English
• Published: Public Library of Science 2014
• Online Access: http://psasir.upm.edu.my/id/eprint/37748/1/journal.pone.0094069.pdf; http://psasir.upm.edu.my/id/eprint/37748/
• Institution: Universiti Putra Malaysia

Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein. The number of repeats correlates with disease severity, wh...