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FARAFARA Cure FA

Friedreich ataxia: neuropathology revised

Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electron transport and assembly of functional aconitase, and iron dysmetabolism of the entire cell.

Read More: Friedreich ataxia: neuropathology revised

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Jen Farmer

Jen Farmer

Executive Director

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