Article
Development of an AAV-based gene therapy for the ocular phenotype of Friedreich's ataxia.
Molecular therapy : the journal of the American Society of Gene Therapy - 4 Feb 2026
Tang Heyu, Gupte Siddhant, Xu Emily, Calabro Kaitlyn R, Friend Hannah, Crosson Sean M, Fajardo Diego, Kostamo Zachary, Zhang Hangning, Peterson James J, Lin Fangyu, Kozmik Zbynek, Lutz Cathleen M, Boye Sanford L, Boye Shannon E
Abstract excerpt
Friedreich's ataxia (FA) is a leading form of hereditary ataxia caused by autosomal recessive mutations in frataxin (FXN). GAA triplet repeat expansions lead to lower levels of FXN expression, abnormal influx of iron into mitochondria, and damage to the nervous system. Patients typically present before the second decade with loss of muscular function, speech impediments, and cardiomyopathy. At later stages,...
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