Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models

• Main Authors: Alain Martelli (Author), Marek Napierala (Author), Hélène Puccio (Author)
• 格式: 图书
• 出版: The Company of Biologists, 2012-03-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

In 1996, a link was identified between Friedreich's ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN). Initial studies revealed that the disease is caused by a unique, most frequently biallelic, expansion of the GAA sequence in intron 1...