Friedreich ataxia
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Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the need for methods that do not require pre-specified candidate repeats.
14p viarchimedes 26-01-2022 8 0 Download
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Friedreich’s ataxia results from a deficiency in the mitochondrial protein frataxin, which carries single point mutations in some patients. In the pres-ent study, we analysed the consequences of different disease-related muta-tions in vitro on the stability and dynamics of human frataxin.
11p galaxyss3 07-03-2013 38 2 Download
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Deficiency of the small mitochondrial protein frataxin causes Friedreich’s ataxia, a severe neurodegenerative pathology. Frataxin, which has been highly conserved throughout evolution, is thought to be involved in, among other processes, Fe–S cluster formation. Independent evidence shows that it binds iron directly, although with very distinct features and low affinity.
12p media19 04-03-2013 38 2 Download
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Friedreich ataxia (FRDA) is a rare hereditary neurodegenerative disease characterized by progressive ataxia and cardiomyopathy. The cause of the disease is a defect in mitochondrial frataxin, an iron chaperone involved in the maturation of Fe–S cluster proteins.
12p vinaphone15 27-02-2013 30 1 Download
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Frataxin is a highly conserved nuclear-encoded mitochondrial protein whose deficiency is the primary cause of Friedreich’s ataxia, an autosomal recessive neurodegenerative disease. The frataxin structure comprises a well-characterized globular domain that is present in all species and is pre-ceded in eukaryotes by a non-conserved N-terminal tail that contains the mitochondrial import signal.
8p viettel02 20-02-2013 32 2 Download