Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.

doi:10.1006/bcmd.2002.0591

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Article

Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.

Blood cells, molecules & diseases - 1 Jan 2000

Pandolfo Massimo

Abstract excerpt

Friedreich ataxia is an autosomal recessive disease causing degeneration in the central and peripheral nervous system, cardiomyopathy, skeletal abnormalities and increased risk of diabetes. It is caused by deficiency of frataxin, a highly conserved nuclear-encoded mitochondrial protein. The genetic mutation found in 98% of Friedreich ataxia chromosomes is the unstable hyperexpansion of a GAA triplet repeat in the...

Topics

Animals
Disease Models, Animal
Friedreich Ataxia
Genotype
Humans
Iron
Iron-Binding Proteins
Mice
Mitochondria
Oxidative Stress
Phenotype
Yeasts
Frataxin

Source

Open in PubMed

Identifiers

PMID: 12547248
DOI: 10.1006/bcmd.2002.0591

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