Literature DB >> 11391483

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.

P I Patel1, G Isaya.   

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Year:  2001        PMID: 11391483      PMCID: PMC1226030          DOI: 10.1086/321283

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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3.  Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.

Authors:  D M Gordon; Q Shi; A Dancis; D Pain
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4.  A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.

Authors:  K Ohshima; N Sakamoto; M Labuda; J Poirier; M L Moseley; L Montermini; L P Ranum; R D Wells; M Pandolfo
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5.  Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

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7.  Intramolecular DNA triplexes in supercoiled plasmids.

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8.  The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia.

Authors:  S V Mariappan; P Catasti; L A Silks; E M Bradbury; G Gupta
Journal:  J Mol Biol       Date:  1999-02-05       Impact factor: 5.469

9.  Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

Authors:  G De Michele; F Cavalcanti; C Criscuolo; L Pianese; A Monticelli; A Filla; S Cocozza
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10.  The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.

Authors:  A Wong; J Yang; P Cavadini; C Gellera; B Lonnerdal; F Taroni; G Cortopassi
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8.  The ferroxidase activity of yeast frataxin.

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9.  Nanopore Fabrication and Application as Biosensors in Neurodegenerative Diseases.

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10.  Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases.

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