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Items: 1 to 20 of 185

1.

Therapeutic developments in Friedreich ataxia.

Wilson RB.

J Child Neurol. 2012 Sep;27(9):1212-6. doi: 10.1177/0883073812449691. Epub 2012 Jul 12. Review.

2.

Iron dysregulation in Friedreich ataxia.

Wilson RB.

Semin Pediatr Neurol. 2006 Sep;13(3):166-75. Review.

PMID:
17101455
3.

Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.

Pandolfo M.

Blood Cells Mol Dis. 2002 Nov-Dec;29(3):536-47; discussion 548-52. Review.

PMID:
12547248
4.

Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.

Vaubel RA, Isaya G.

Mol Cell Neurosci. 2013 Jul;55:50-61. doi: 10.1016/j.mcn.2012.08.003. Epub 2012 Aug 11. Review.

5.

Friedreich ataxia: a paradigm for mitochondrial diseases.

Puccio H, Koenig M.

Curr Opin Genet Dev. 2002 Jun;12(3):272-7. Review.

PMID:
12076669
6.

Primary and secondary drug screening assays for Friedreich ataxia.

Cotticelli MG, Rasmussen L, Kushner NL, McKellip S, Sosa MI, Manouvakhova A, Feng S, White EL, Maddry JA, Heemskerk J, Oldt RJ, Surrey LF, Ochs R, Wilson RB.

J Biomol Screen. 2012 Mar;17(3):303-13. doi: 10.1177/1087057111427949. Epub 2011 Nov 15.

PMID:
22086726
7.

Friedreich Ataxia: From the Eye of a Molecular Biologist.

Muthuswamy S, Agarwal S.

Neurologist. 2015 Sep;20(3):51-5. doi: 10.1097/NRL.0000000000000054. Review.

PMID:
26375377
8.

Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.

Gomes CM, Santos R.

Oxid Med Cell Longev. 2013;2013:487534. doi: 10.1155/2013/487534. Epub 2013 Jul 9. Review.

9.

Frataxin and mitochondrial FeS cluster biogenesis.

Stemmler TL, Lesuisse E, Pain D, Dancis A.

J Biol Chem. 2010 Aug 27;285(35):26737-43. doi: 10.1074/jbc.R110.118679. Epub 2010 Jun 3. Review.

10.

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.

Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA.

Hum Mol Genet. 2008 Aug 1;17(15):2265-73. doi: 10.1093/hmg/ddn127. Epub 2008 Apr 17.

11.

Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.

Li H, Gakh O, Smith DY 4th, Ranatunga WK, Isaya G.

J Biol Chem. 2013 Feb 8;288(6):4116-27. doi: 10.1074/jbc.M112.435263. Epub 2012 Dec 26.

12.

Recent advances in the molecular pathogenesis of Friedreich ataxia.

Puccio H, Koenig M.

Hum Mol Genet. 2000 Apr 12;9(6):887-92. Review.

PMID:
10767311
13.

Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia.

Anzovino A, Lane DJ, Huang ML, Richardson DR.

Br J Pharmacol. 2014 Apr;171(8):2174-90. doi: 10.1111/bph.12470. Review.

14.

Friedreich's ataxia.

Alper G, Narayanan V.

Pediatr Neurol. 2003 May;28(5):335-41. Review.

PMID:
12878293
15.

Friedreich ataxia: an update on animal models, frataxin function and therapies.

González-Cabo P, Llorens JV, Palau F, Moltó MD.

Adv Exp Med Biol. 2009;652:247-61. doi: 10.1007/978-90-481-2813-6_17. Review.

PMID:
20225031
16.

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.

Huang ML, Becker EM, Whitnall M, Suryo Rahmanto Y, Ponka P, Richardson DR.

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16381-6. doi: 10.1073/pnas.0906784106. Epub 2009 Sep 4.

17.

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia.

Whitnall M, Suryo Rahmanto Y, Huang ML, Saletta F, Lok HC, Gutiérrez L, Lázaro FJ, Fleming AJ, St Pierre TG, Mikhael MR, Ponka P, Richardson DR.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):20590-5. doi: 10.1073/pnas.1215349109. Epub 2012 Nov 20.

18.

Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.

Gakh O, Bedekovics T, Duncan SF, Smith DY 4th, Berkholz DS, Isaya G.

J Biol Chem. 2010 Dec 3;285(49):38486-501. doi: 10.1074/jbc.M110.145144. Epub 2010 Oct 2. Erratum in: J Biol Chem. 2011 Mar 11;286(10):8708.

19.

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.

Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P.

Nat Genet. 1997 Oct;17(2):215-7.

PMID:
9326946
20.

Friedreich ataxia: new pathways.

Pandolfo M.

J Child Neurol. 2012 Sep;27(9):1204-11. doi: 10.1177/0883073812448534. Epub 2012 Jun 29.

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