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March 15, 2019
A TAT–Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich’s ataxia mouse model >
Human Molecular Genetics | Friedreich’s ataxia (FRDA) is the most common inherited human ataxia and results from a deficiency of the mitochondrial protein, frataxin (FXN), which is encoded in the nucleus. This deficiency is associated with an iron–sulfur (Fe–S) cluster enzyme deficit leading to progressive ataxia and a frequently fatal cardiomyopathy.
March 1, 2019
Riley Symposium | Friedreich’s ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death.
July 8, 2010
Molecular Genetics and Metabolism | Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by reduced amounts of the mitochondrial protein frataxin. Frataxin levels in research studies are typically measured via Western blot analysis from patient fibroblasts, lymphocytes, or muscle biopsies; none of these is ideal for rapid detection in large scale clinical studies.