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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.


A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease affecting 1 in 50,000 people and is caused by a GAA-trinucleotide expansion in the frataxin gene located on chromosome locus 9q13 which results in a markedly reduced expression of frataxin, a small mitochondrial protein. The exact function of frataxin is still unknown and currently there is no approved treatment available. In the near future there will be a high demand for measuring frataxin protein levels due to the development of therapeutic strategies for FRDA based on manipulating frataxin expression levels in vivo.

A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich''s Ataxia Patients: Cellular Model of Pathology

The neurodegenerative disease Friedreich's ataxia (FRDA) is the most common autosomal-recessively inherited ataxia and is caused by a GAA triplet repeat expansion in the first intron of the frataxin gene. In this disease, transcription of frataxin, a mitochondrial protein involved in iron homeostasis, is impaired, resulting in a significant reduction in mRNA and protein levels. Global gene expression analysis was performed in peripheral blood samples from FRDA patients as compared to controls, which suggested altered expression patterns pertaining to genotoxic stress.

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich''s Ataxia Patients: Cellular Model of Pathology

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria, and arreflexia. A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner-rated functional disability scales, self-reported activities of daily living and performance measures such as the timed 25-foot walk, 9-hole pegboard test, PATA speech test, and low-contrast letter acuity vision charts.

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

2009 FARA Scientific News

Scientific News

2009

Iron binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region
Correia AR, Wang T, Craig EA, Gomes CM
Biochem J. [Epub ahead of print]

Clinical measures of dysarthria in Friedreich Ataxia
Arunjot Singh, Elizabeth Epstein, Lauren M. Myers, Jennifer M. Farmer, David R. Lynch
Mov Disord. [Epub ahead of print]

The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia
Des R. Richardson, Michael L-H. Huang, Megan Whitnall, Erika M. Becker, Prem Ponka, Yohan Suryo Rahmanto
J Mol Med DOI 10.1007/s00109-009-0565-x

Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription
Irene De Biase, Yogesh K. Chutake, Paul M. Rindler, Sanjay I. Bidichandani
PLoS ONE 4(11): e7914. doi:10.1371/journal.pone.0007914

Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction
Corben LA, Delatycki MB, Bradshaw JL, Horne MK, Fahey MC, Churchyard AJ, Georgiou-Karistianis N.
J Neurol. 2009 Dec 3. [Epub ahead of print]

Yeast frataxin mutants display decreased superoxide dismutase activities crucial to promote protein oxidative damage
Irazusta V, Obis E, Moreno-Cermeño A, Cabiscol E, Ros J, Tamarit J.
Free Radic Biol Med. 2009 Nov 19. [Epub ahead of print]

A comparison of three measures of upper limb function in Friedreich ataxia
Corben LA, Tai G, Wilson C, Collins V, Churchyard AJ, Delatycki MB
J Neurol. 2009 Oct 13. [Epub ahead of print]

Frataxin interacts with Isu1 through a conserved tryptophan in its ß-sheet
Sébastien Leidgens, Sébastien De Smet and Françoise Foury Human Molecular Genetics, doi:10.1093/hmg/ddp495

Subclinical Myocardial Ischemia Without LV Hypertrophy in Friedreich's Ataxia
Kavita Phatak; John Kissel; Beth McCarthy; Chad Hoyle; Miriam Freimer; Tam Tran; Roula al-Dahhak; Subha Raman Circulation. 2009;120:S299-S300

Auditory Perception in Individuals with Friedreich's Ataxia
Gary Rance, Louise Corben, Elizabeth Barker, Peter Carew, Donella Chisari, Meghan Rogers, Richard Dowell, Saiful Jamaluddin, Rochelle Bryson, Martin B. Delatycki

Progressive GAA·TTC Repeat Expansion in Human Cell Lines
Ditch S, Sammarco MC, Banerjee A, Grabczyk E, 2009
PLoS Genet 5(10): e1000704. doi:10.1371/journal.pgen.1000704

The N-terminus of mature human frataxin is intrinsically unfolded
Croarkin E, Maring J, Pfalzer L, Harris-Love M, Siegel K, Diprospero N. PMID: 19809393 [PubMed - in process]

Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia
Prischi F, Giannini C, Adinolfi S, Pastore A. PMID: 19843162 [PubMed - as supplied by publisher]

Diverse effects in Friedreich's ataxia place PGC-1alpha center-stage
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Vancouver, BC, Canada. PMID: 19793309 [PubMed - in process]

Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing
Xu C, Soragni E, Chou CJ, Herman D, Plasterer HL, Rusche JR, Gottesfeld JM. PMID: 19778726 [PubMed - in process] Chem Biol. 2009 Sep 25;16(9):980-9

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities
Sparaco M, Gaeta LM, Santorelli FM, Passarelli C, Tozzi G, Bertini E, Simonati A, Scaravilli F, Taroni F, Duyckaerts C, Feleppa M, Piemonte F J Neurol Sci. 2009 Sep 11. [Epub ahead of print]

Histone Deacetylase Inhibitors and Neurodegenerative Disorders: Holding the Promise
Rotili D, Valente S, Kazantsev AG Curr Pharm Des. 2009 Sep 15:Antonello-Mai. [Epub ahead of print]

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant
Michael Li-Hsuan Huang, Erika M. Becker, Megan Whitnall, Yohan Suryo Rahmanto, Prem Ponka, and Des R. Richardson PNAS. published 4 September 2009, 10.1073/pnas.0906784106

The dorsal root ganglion in Friedreich's ataxia
Koeppen AH, Morral JA, Davis AN, Qian J, Petrocine SV, Knutson MD, Gibson WM, Cusack MJ, Li D. Acta Neuropathol. 2009 Aug 30. [Epub ahead of print]

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Calmels N, Seznec H, Villa P, Reutenauer L, Hibert M, Haiech J, Rustin P, Koenig M, Puccio H.
BMC Neurology 2009, 9:46doi:10.1186/1471-2377-9-46 Published: 24 August 2009

Frataxin deficiency induces schwann cell inflammation and death.
Lu C, Schoenfeld R, Shan Y, Tsai C, Hammock B, Cortopassi G. Department of Molecular Biosciences, University of California, Davis, California, 95616.

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia
Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio. PlosOne July 24, 2009

Large-scale expansions of Friedreich's ataxia GAA repeats in yeast
Shishkin AA, Voineagu I, Matera R, Cherng N, Chernet BT, Krasilnikova MM, Narayanan V, Lobachev KS, Mirkin SM. July 9, 2009 doi:10.1016/j.molcel.2009.06.017

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)
Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig TM, Haug V, Timmann D, Degen I, Kruse B, Dörr JM, Ratzka S, Ivo A, Schöls L, Boesch S, Klockgether T, Klopstock T, Schulz JB. Movement Disorders June 26, 2009

Nitric oxide and frataxin: two players contributing to maintain cellular iron homeostasis
Leonor Ramirez, Eduardo Julian Zabaleta, and Lorenzo Lamattina Ann. Bot. published 25 June 2009, 10.1093/aob/mcp147

Subjective Improvement in Proprioception in 2 Patients With Atypical Friedreich Ataxia Treated With Varenicline (Chantix)
Zesiewicz, Theresa A; Sullivan, Kelly L; Gooch, Clifton L; Lynch, David R Journal of Clinical Neuromuscular Disease. 10(4):191-193, June 2009.

Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction.
Marusich MF, Murray J, Xie J, Capaldi RA. Int J Biochem Cell Biol. 2009 May 18. [Epub ahead of print]

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Hum Mol Genet. 2009 Apr 17.

Peptide nucleic acid (PNA) binding and its effect on in vitro transcription in friedreich's ataxia triplet repeats.
Belotserkovskii BP, Liu R, Hanawalt PC. Mol Carcinog. 2009 Apr;48(4):299-308.

Overexpression of the yeast frataxin homolog (Yfh1): contrasting effects on iron-sulfur cluster assembly, heme synthesis and resistance to oxidative stress.
Seguin A, Bayot A, Dancis A, Rogowska-Wrzesinska A, Auchère FO, Camadro JM, Bulteau AL, Lesuisse E. Mitochondrion. 2009 Apr;9(2):130-8. Epub 2009 Jan 22.

Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Brk K, Drr A, Giunti P, Mariotti C, Pousset F, Schls L, Vankan P, Pandolfo M. Nat Rev Neurol. 2009 Apr;5(4):222-34.

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Salvatore Adinolfi, Clara Iannuzzi, Filippo Prischi, Chiara Pastore, Stefania Iametti, Stephen R Martin, Franco Bonomi, and Annalisa Pastore. Nat Struct Mol Biol, March 22, 2009;.

Peptide nucleic acid (PNA) binding and its effect on in vitro transcription in friedreich's ataxia triplet repeats.
Boris P Belotserkovskii, Richard Liu, and Philip C Hanawalt. Mol Carcinog, March 20, 2009; 48(4): 299-308.

A combined voxel-based morphometry and (1)H-MRS study in patients with Friedreich's ataxia.
Frana MC Jr, D'Abreu A, Yasuda CL, Bonadia LC, Santos da Silva M, Nucci A, Lopes-Cendes I, Cendes F. J Neurol. 2009 Mar 12. [Epub ahead of print]

Friedreich's ataxia impact scale: A new measure striving to provide the flexibility required by today's studies.
Cano SJ, Riazi A, Schapira AH, Cooper JM, Hobart JC. Mov Disord. 2009 Feb 17. [Epub ahead of print]

Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia.
Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Khatami M. Can J Neurol Sci. 2009 Jan;36(1):26-31.

Pharmacotherapy for friedreich ataxia.
AY Tsou, LS Friedman, RB Wilson, and DR Lynch. CNS Drugs, January 1, 2009; 23(3): 213-23.

Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells.
Zaibak F, Kozlovski J, Vadolas J, Sarsero JP, Williamson R, Howden SE. Gene Ther. 2009 Jan 29. [Epub ahead of print]

Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
Daniele Marmolino and Fabio Acquaviva. Cerebellum, January 23, 2009; [Epub ahead of print]

Impaired nuclear Nrf2 translocation undermines the oxidative stress response in friedreich ataxia.
Paupe V, Dassa EP, Goncalves S, Auchre F, Lnn M, Holmgren A, Rustin P. PLoS ONE. 2009;4(1):e4253. Epub 2009 Jan 22.

Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins.
Guillon B, Bulteau AL, Wattenhofer-Donz M, Schmucker S, Friguet B, Puccio H, Drapier JC, Bouton C. FEBS J. 2009 Jan 12. [Epub ahead of print]

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