Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models
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 of FX...
Main Authors: | Alain Martelli, Marek Napierala, Hélène Puccio |
---|---|
Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2012-03-01
|
Series: | Disease Models & Mechanisms |
Online Access: | http://dmm.biologists.org/content/5/2/165 |
Similar Items
-
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation
by: Alain eMartelli, et al.
Published: (2014-06-01) -
The pathogenesis of cardiomyopathy in Friedreich ataxia.
by: Arnulf H Koeppen, et al.
Published: (2015-01-01) -
Friedreich ataxia- pathogenesis and implications for therapies
by: Martin B. Delatycki, et al.
Published: (2019-12-01) -
Genetics of Friedreich Ataxia
by: J Gordon Millichap
Published: (1997-06-01) -
Genetics and Friedreich Ataxia
by: J Gordon Millichap
Published: (2002-06-01)