Scientific News
2008
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Marmolino D, Acquaviva F, Pinelli M, Monticelli A, Castaldo I, Filla A, Cocozza S. Cerebellum. 2008 Dec 23. [Epub ahead of print]
E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence.
Bourn RL, Rindler PM, Pollard LM, Bidichandani SI. Mutat Res. 2008 Nov 13; [Epub ahead of print]
Chromatin remodeling in the non-coding repeat expansion diseases.
Kumari D, Usdin K. J Biol Chem. 2008 Oct 28; [Epub ahead of print]
Coenzyme Q and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q therapy.
Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH. Eur J Neurol. 2008 Dec;15(12):1371-9.
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, Khatami M. Neurol Sci. 2008 Nov 28. [Epub ahead of print].
Idebenone in Friedreich's ataxia.
Tonon C, Lodi R. Expert Opin Pharmacother. 2008 Sep; 9 (13): 2327-37.
Visual system involvement in patients with Friedreich's ataxia.
Filippo Fortuna, Piero Barboni, Rocco Liguori, Maria Lucia Valentino, Giacomo Savini, Cinzia Gellera, Caterina Mariotti, Giovanni Rizzo, Caterina Tonon, David Manners, Raffaele Lodi, Alfredo A Sadunand Valerio Carelli Brain 2008 Oct 18.
Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair.
Kim HM, Narayanan V, Mieczkowski PA, Petes TD, Krasilnikova MM, Mirkin SM, Lobachev KS. EMBO J. 2008 Oct 2; [Epub ahead of print]
Iron-sulfur cluster biogenesis and human disease.
Rouault TA, Tong WH. Trends Genet. 2008 Aug;24(8):398-407. Epub 2008 Jul 5.print].
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.
E. Soragni, D. Herman, S. Y. R. Dent, J. M. Gotte sfeld, R. D. Wells, and M. Napierala. Nucleic Acids Res. published 27 September 2008.
Mitochondrial Ferritin Limits Oxidative Damage Regulating Mitochondrial Iron Availability: Hypothesis for a Protective Role in Friedreich Ataxia.
Campanella A, Rovelli E, Santambrogio P, Cozzi A, Taroni F, Levi S. Hum Mol Genet. 2008 Sep 24.
A Novel Mitochondrial Heteroplasmic C13806A Point Mutation Associated with Iranian Friedreich's Ataxia.
Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, Khatami M. Cell Mol Neurobiol. 2008 Sep 19. [Epub ahead of print]
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Or Kakhlon, Hila Manning, William Breuer, Naomi Melamed-Book, Chunye Lu, Gino Cortopassi, Arnold Munnich, and Z. Ioav Cabantchik Blood. published 16 September 2008.
Long-term blinded placebo-controlled study of SNT-MC17/idebenone in the dystrophin deficient mdx mouse: cardiac protection and improved exercise performance.
Gunnar M. Buyse, Gerry Van der Mieren, Michael Erb, Jan D'hooge, Paul Herijgers, Erik Verbeken, Alejandro Jara, An Van Den Bergh, Luc Mertens, Isabelle Courdier-Fruh, Patrizia Barzaghi, and Thomas Meier Eur. Heart J. published 10 September 2008.
Assembly of the iron-binding protein frataxin in S. cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Gakh O, Smith Iv DY, Isaya G. J Biol Chem. 2008 Sep 9; [Epub ahead of print].
Friedreich's Ataxia GAA.TTC Duplex and GAA.GAA.TTC Triplex Structures Exclude Nucleosome Assembly.
Ruan H, Wang YH. J Mol Biol. 2008 Aug 27; [Epub ahead of print].
Predictors of progression in patients with Friedreich ataxia.
La Pean A, Jeffries N, Grow C, Ravina B, Di Prospero NA. Mov Disord. 2008 Aug 29. [Epub ahead of print].
Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: A clinical pilot trial.
Boesch S, Sturm B, Hering S, Scheiber-Mojdehkar B, Steinkellner H, Goldenberg H, Poewe W. Mov Disord. 2008 Aug 29. [Epub ahead of print].
In vivo imaging of pyrrole-imidazole polyamides with positron emission tomography
Harki DA, Satyamurthy N, Stout DB, Phelps ME, Dervan PB. Proc Natl Acad Sci U S A. 2008 Aug 27. [Epub ahead of print].
The in vivo mitochondrial two-step maturation of human frataxin.
Schmucker S, Argentini M, Carelle-Calmels N, Martelli A, Puccio H. Hum Mol Genet. 2008 Aug 25; [Epub ahead of print].
The Longitudinal Course of Cardiomyopathy in Friedreich's Ataxia During Childhood.
Kipps A, Alexander M, Colan SD, Gauvreau K, Smoot L, Crawford L, Darras BT, Blume ED. Pediatr Cardiol. 2008 Aug 21; [Epub ahead of print].
Idebenone in Friedreich's ataxia.
Tonon C, Lodi R. Expert Opin Pharmacother. 2008 Sep;9(13):2327-37.
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patient.
Imma Castaldo, Michele Pinelli, Antonella Monticelli, Fabio Acquaviva, Manuela Giacchetti, Alessandro Filla, Silvana Sacchetti, Simona Keller, Vittorio Enrico Avvedimento, Lorenzo Chiariotti, and Sergio Cocozza. J. Med. Genet. published 12 August 2008.
Urinary isoprostanes in Friedreich ataxia: Lack of correlation with disease features.
Myers LM, Lynch DR, Farmer JM, Friedman LS, Lawson JA, Wilson RB. Mov Disord. 2008 Jul 31. [Epub ahead of print]
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation.
Whitnall M, Rahmanto YS, Sutak R, Xu X, Becker EM, Mikhael MR, Ponka P, Richardson DR. Proc Natl Acad Sci U S A. 2008 Jul 15;105(28):9757-62. [Epub 2008 Jul 9]
Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly.
Kondapalli KC, Kok NM, Dancis A, Stemmler TL. Biochemistry. 2008
Jul 1
Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing.
Baralle M, Pastor T, Bussani E, Pagani F. Am J Hum Genet. 2008 Jun 30
Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression.
Acquaviva F, Castaldo I, Filla A, Giacchetti M, Marmolino D, Monticelli A, Pinelli M, Saccà F, Cocozza S. Cerebellum. 2008 Jun 26. [Epub ahead of print]
The human CIA component huNbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasis.
Stehling O, Netz DJ, Niggemeyer B, Rösser R, Eisenstein RS, Puccio H, Pierik AJ, Lill R. Mol Cell Biol. 2008 Jun 23. [Epub ahead of print]
Health related quality of life measures in Friedreich Ataxia.
Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. J Neurol Sci. 2008 Jun 19. [Epub ahead of print]
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.
Auchère F, Santos R, Planamente S, Lesuisse E, Camadro JM. Hum Mol Genet. 2008 Jun 18. [Epub ahead of print]
Deferiprone targets aconitase: implication for Friedreich's ataxia treatment.
Goncalves S, Paupe V, Dassa EP, Rustin P. BMC Neurol. 2008 Jun 16.
Dynamics, stability and iron-binding activity of frataxin clinical mutants.
Correia AR, Pastore C, Adinolfi S, Pastore A, Gomes CM. FEBS J. 2008 Jun 5. [Epub ahead of print]
Speech perception ability in individuals with Friedreich ataxia.
Rance G, Fava R, Baldock H, Chong A, Barker E, Corben L, Delatycki MB. Brain. 2008 May 30. [Epub ahead of print]
A cytosolic iron chaperone that delivers iron to ferritin.
Shi H, Bencze KZ, Stemmler TL, Philpott CC. Science. 2008 May 30.
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers
Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF. Mol Genet Metab. 2008 May 14. [Epub ahead of print]
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, Lynch DR. Mov Disord. 2008 May 7 [Epub ahead of print]
Ancestral roles of eukaryotic frataxin: mitochondrial frataxin function and heterologous expression of hydrogenosomal Trichomonas homologs in trypanosomes.
Long S, Jirk_ M, Mach J, Ginger ML, Sutak R, Richardson D, Tachezy J, Luke_ J. Mol Microbiol. 2008 May 6 [Epub ahead of print]
Protection Against Hydrogen Peroxide-Mediated Cytotoxicity in Friedreich's Ataxia Fibroblasts using Novel Iron Chelators of the PCIH Class.
Lim CK, Kalinowski DS, Richardson DR. Mol Pharmacol. 2008 Apr 18 [Epub ahead of print]
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 Apr 17 [Epub ahead of print]
Antioxidant use in Friedreich ataxia.
Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR. J Neurol Sci. 2008 Apr 15;267(1-2):174-6. Epub 2007 Nov 7
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Rai M, Soragni E, Jenssen K, Burnett R, Herman D, Coppola G, Geschwind DH, Gottesfeld JM, Pandolfo M. PLoS ONE. 2008 Apr 9;3(4):e1958.
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
Schagerlöf U, Elmlund H, Gakh O, Nordlund G, Hebert H, Lindahl M, Isaya G, Al-Karadaghi S. Biochemistry. 2008 Apr 29;47(17):4948-54. Epub 2008 Apr 5.
Orthopedic shoes improve gait in Friedreich's ataxia: a clinical and quantified case study.
Goulipian C, Bensoussan L, Viton JM, Milhe-De Bovis V, Ramon J, Delarque A. Eur J Phys Rehabil Med. 2008 Mar.
Friedreich's ataxia and scoliosis: the experience at two institutions.
Milbrandt TA, Kunes JR, Karol LA. J Pediatr Orthop. 2008 Mar;28(2):234-8.
Proteomic analysis of hearts from frataxin knockout mice: Marked rearrangement of energy metabolism, a response to cellular stress and altered expression of proteins involved in cell structure, motility and metabolism.
Sutak R, Xu X, Whitnall M, Kashem MA, Vyoral D, Richardson DR. Proteomics. 2008 Mar 13 [Epub ahead of print]
Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, Isu
Tao Wang and Elizabeth A. Craig. J Biol Chem. 2008 May 2;283(18):12674-9. Epub 2008 Mar 4.
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M. Hum Mol Genet. 2008 Mar 1;17(5):735-46. Epub 2007 Nov 27.
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry.
Della Nave R, Ginestroni A, Tessa C, Salvatore E, Bartolomei I, Salvi F, Dotti MT, De Michele G, Piacentini S, Mascalchi M. Neuroimage. 2008 Mar 1;40(1):19-25. Epub 2007 Dec 14.
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin.
Zanella I, Derosas M, Corrado M, Cocco E, Cavadini P, Biasiotto G, Poli M, Verardi R, Arosio P. Biochim Biophys Acta. 2008 Feb;1782(2):90-8. Epub 2007 Dec 5.
Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence
Laura M. Pollard, Rebecka L. Bourn, and Sanjay I. Bidichandani. Nucleic Acids Res. 2008 Feb;36(2):489-500. Epub 2007 Nov 27
Drug Insight: antioxidant therapy in inherited ataxias.
Pandolfo M. Nat Clin Pract Neurol. 2008 Feb;4(2):86-96.
Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila.
Runko AP, Griswold AJ, Min KT. FEBS Lett. 2008 Mar 5;582(5):715-9. Epub 2008 Feb 5.
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications.
Sohn YS, Breuer W, Munnich A, Cabantchik ZI. Blood. 2008 Feb 1;111(3):1690-9. Epub 2007 Nov 1.
Phosphorus-31 two-dimensional chemical shift imaging in the myocardium of patients with late onset of Friedreich ataxia.
Wolf C, Boesch S, Metzler B, Weirich-Schwaiger H, Trieb T, Schocke MF. Mol Imaging Biol. 2008 Jan-Feb;10(1):24-9. Epub 2007 Nov 14
Brain structural damage in Friedreich's ataxia.
Della Nave R, Ginestroni A, Giannelli M, Tessa C, Salvatore E, Salvi F, Dotti MT, De Michele G, Piacentini S, Mascalchi M. J Neurol Neurosurg Psychiatry. 2008 Jan;79(1):82-5. Epub 2007 Jul 18.
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia.
Fahey MC, Cremer PD, Aw ST, Millist L, Todd MJ, White OB, Halmagyi M, Corben LA, Collins V, Churchyard AJ, Tan K, Kowal L, Delatycki MB. Brain. 2008 Apr;131(Pt 4):1035-45. Epub 2008 Jan 30.
Major targets of iron-induced protein oxidative damage in frataxin-deficient yeasts are magnesium-binding proteins.
Irazusta V, Moreno-Cermeño A, Cabiscol E, Ros J, Tamarit J. Free Radic Biol Med. 2008 May 1;44(9):1712-23. Epub 2008 Jan 30.
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up.
Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell L, Sierra C, Brandi N, García-Arumí E, Rissech M, Velasco D, Costa JA, Artuch R. Eur J Paediatr Neurol. 2008 Jan 28 [Epub ahead of print]
DNA triplexes and Friedreich ataxia.
Wells, RD. FASEB J. 2008 Jan 22 [Epub ahead of print]
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Anderson PR, Kirby K, Orr WC, Hilliker AJ, Phillips JP. Proc Natl Acad Sci U S A. 2008 Jan 15;105(2):611-6. Epub 2008 Jan 9.
Phase III Idebenone Recruitment
January 3, 2008