Latest Updates
Apr 30, 2013 - Latest Updates |
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Scientific News
Downstream MMR processing contributes to GAA·TTC repeat expansion
Ed Grabczyk, Anasheh Halabi and Claire Fitzgerald FASEB J. April 2013 27 (Meeting Abstract Supplement) lb76 Posted: 04-24-2013 - FARA Funded Research
Cardiac remodeling of intercalated discs in Friedreich’s ataxia
Joseph E. Mazurkiewicz, R. Lianne Ramirez and Arnulf H. Koeppen FASEB J. April 2013 27 (Meeting Abstract Supplement) 1194.8 Posted: 04-24-2013 - FARA Funded Research
Therapeutic Strategies in Friedreich's ataxia
Richardson TE, Kelly HN, Yu AE, Simpkins JW Brain Res. 2013 Apr 13. pii: S0006-8993(13)00518-0. doi: 10.1016/j.brainres.2013.04.005. Posted: 04-24-2013
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons
D'Oria V, Petrini S, Travaglini L, Priori C, Piermarini E, Petrillo S, Carletti B, Bertini E, Piemonte F Int J Mol Sci. 2013 Apr 10;14(4):7853-65. doi: 10.3390/ijms14047853. Posted: 04-24-2013
Cerebello-cerebral connectivity deficits in Friedreich ataxia
Zalesky A, Akhlaghi H, Corben LA, Bradshaw JL, Delatycki MB, Storey E, Georgiou-Karistianis N, Egan GF Brain Struct Funct. 2013 Apr 7. [Epub ahead of print] Posted: 04-24-2013
Mitochondrial Diseases of the Brain
Chaturvedi RK, Flint Beal M Free Radic Biol Med. 2013 Apr 5. pii: S0891-5849(13)00123-8. doi: 10.1016/j.freeradbiomed.2013.03.018. Posted: 04-24-2013
Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies
Aurélien Bayot, Sacha Reichman, Sophie Lebon, Zsolt Csaba, Laetitia Aubry, Ghislaine Sterkers, Isabelle Husson, Malgorzata Rak and Pierre Rustin Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt144 Posted: 04-05-2013
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia
Sirena Soriano, José V. Llorens, Laura B. Sobero, Lucía Gutiérrez, Pablo Calap-Quintana, M. Puerto Morales, M. Dolores Moltó, M. José Martínez-Sebastián ISSN 0378-1119, 10.1016/j.gene.2013.02.049. Posted: 04-05-2013
Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol
Maurel N, Diop A, Gouelle A, Alberti C, Husson I Clin Biomech (Bristol, Avon). 2013 Mar 25. pii: S0268-0033(13)00023-5. doi: 10.1016/j.clinbiomech.2013.02.007. Posted: 04-01-2013
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy
Chiranjeevi Sandi, Sahar Al-Mahdawi, and Mark A. Pook Genet Res Int. 2013; 2013: 852080. Posted: 04-01-2013 FARA News
April 30, 2013
![]() Race for Christina to support Friedreich's Ataxia Research
April 26, 2013
![]() Riding through to strength Hand cycling brings direction for Lauren Williams as she lives with a degenerative nerve disorder
April 11, 2013
![]() Save The Date! Oct 14, 2013 - 6th Annual FA Symposium Children's Hospital of Philadelphia
April 4, 2013
![]() "Concert for a Cure" FARA benefit Univ. of Rochester Yellowjackets sing their way into our hearts |
Now thru May 3rd, 2013
![]() Team Brittany - Fit for FARA Weight Loss Challenge
May 16, 2013
Cobb Professional Fire Fighters 9th Annual Laura Beth Golf Tournament Marietta, GA Contact: FARA
May 21, 2013
11th Annual DC Regional Outback Steakhouse Charity Golf Classic Waldorf, MD Contact: Misty Waters
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Mar 31, 2013 - Latest Updates |
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Scientific News
The Molecular Basis of Iron-induced Oligomerization of Frataxin and the Role of the Ferroxidation Reaction in Oligomerization
Christopher A. G. Soderberg, Sreekanth Rajan, Alexander V. Shkumatov, Oleksandr Gakh, Susanne Schaefer, Eva-Christina Ahlgren, Dmitri I. Svergun, Grazia Isaya, and Salam Al-Karadaghi J. Biol. Chem. 2013; 288(12): p. 8156-8167 Posted: 03-24-2013
Discovery of a Novel Small Molecule Inhibitor Targeting the Frataxin/Ubiquitin Interaction via Structure-Based Virtual Screening and Bioassays
Lavecchia A J Med Chem. 2013 Mar 18. [Epub ahead of print] Posted: 03-24-2013
Bilateral cochlear implantation in Friedreich's ataxia: A case study
Frewin B, Chung M, Donnelly N Cochlear Implants Int. 2013 Mar 9. [Epub ahead of print] Posted: 03-17-2013
A Dynamic Model of the Proteins that Form the Initial Iron-Sulfur Cluster Biogenesis Machinery in Yeast Mitochondria
Amela I, Delicado P, Gómez A, Querol E, Cedano J Protein J. 2013 Mar 6. [Epub ahead of print] Posted: 03-17-2013
Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions
Follonier C, Oehler J, Herrador R, Lopes M Nat Struct Mol Biol. 2013 Mar 3. doi: 10.1038/nsmb.2520. [Epub ahead of print] Posted: 03-17-2013
Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany
Giunti P, Greenfield J, Stevenson AJ, Parkinson MH, Hartmann JL, Sandtmann R, Piercy J, O Hara J, Casas LR, Smith FM Orphanet J Rare Dis. 2013 Feb 28;8(1):38. [Epub ahead of print] Posted: 03-17-2013
Effects of alkyl side chain modification of coenzyme Q10 on mitochondrial respiratory chain function and cytoprotection
Fash DM, Khdour OM, Sahdeo SJ, Goldschmidt R, Jaruvangsanti J, Dey S, Arce PM, Collin VC, Cortopassi GA, Hecht SM Bioorg Med Chem. 2013 Feb 13. pii: S0968-0896(13)00125-9. doi: 10.1016/j.bmc.2013.01.075. [Epub ahead of print] Posted: 03-17-2013 - FARA Funded Research
The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia
Koeppen AH, Ramirez RL, Bjork ST, Bauer P, Feustel PJ Cerebellum. 2013 Feb 7. [Epub ahead of print] Posted: 03-17-2013 - FARA Funded Research
Complexes between two GAA Repeats within DNA introduced into Cos-1 cells
Krasilnikova MM Mob Genet Elements. 2012 Nov 1;2(6):267-271. Posted: 03-17-2013
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by
Vitamin B3 Chan PK, Torres R, Yandim C, Law PP, Khadayate S, Mauri M, Grosan C, Chapman-Rothe N, Giunti P, Pook M, Festenstein R Hum Mol Genet. 2013 Mar 7 Posted: 03-13-2013
A Dynamic Model of the Proteins that Form the Initial Iron-Sulfur Cluster Biogenesis Machinery in Yeast Mitochondria
Amela I, Delicado P, Gómez A, Querol E, Cedano J Protein J. 2013 Mar 6 [Epub ahead of print] Posted: 03-13-2013
Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia
Low SC, Corben LA, Delatycki MB, Ternes AM, Addamo PK, Georgiou-Karistianis N J Neurol. 2013 Mar 5 [Epub ahead of print] Posted: 03-13-2013
Very late-onset Friedreich ataxia: later than life expectancy?
Alvarez V, Arnold P, Kuntzer T J Neurol. 2013 Feb 22 [Epub ahead of print] Posted: 03-13-2013
Cognition in Late-Onset Friedreich Ataxia
Nieto A, Correia R, de Nóbrega E, Montón F, Barroso J Cerebellum. 2013 Feb 9 [Epub ahead of print] Posted: 03-13-2013
Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia
Li L, Voullaire L, Sandi C, Pook MA, Ioannou PA, Delatycki MB, Sarsero JP PLoS One. 2013;8(2):e55940. doi: 10.1371/journal.pone.0055940 Posted: 03-04-2013 - FARA Funded Research FARA News
March 28, 2013
![]() Annual run spreads awareness for rare and lethal disease
March 28, 2013
![]() Research fundraiser more than doubles goal
March 21, 2013
![]() College student poses challenge to life-threatening disease
March 12, 2013
![]() Just Like Me: The Taylor Family Foundation
March 10, 2013
![]() Young Woman With Rare Disease Cycles through Denton
Related Story: Rider Not Letting Ataxia Stop Race For Awareness
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April 5, 2013
YellowJackets Spring Show for FARA University of Rochester Rochester, NY Contact: FARA
April 13, 2013
Pull for a Cure - Clay Shoot Tampa Bay Sporting Clays Land O Lakes, FL Register Online or Register by Mail Contact: FARA
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Feb 28, 2013 - Latest Updates |
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Scientific News
Friedreich ataxia: neuropathology revised
Koeppen AH, Mazurkiewicz JE J Neuropathol Exp Neurol. 2013 Feb;72(2):78-90. doi: 10.1097/NEN.0b013e31827e5762 Posted: 02-06-2013 - FARA Funded Research
Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia
Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude PLoS ONE 8(1): e54791. doi:10.1371/journal.pone.0054791 Posted: 02-06-2013
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model
Shan Y, Schoenfeld RA, Hayashi G, Napoli E, Akiyama T, Iodi-Carstens M, Carstens EE, Pook MA, Cortopassi G Antioxid Redox Signal. 2013 Jan 27. [Epub ahead of print] Posted: 02-06-2013
Friedreich Ataxia: Dysarthria Profile and Clinical Data
Brendel B, Ackermann H, Berg D, Lindig T, Schölderle T, Schöls L, Synofzik M, Ziegler W Cerebellum. 2013 Jan 13. [Epub ahead of print] Posted: 02-06-2013
Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database
Günther Metz, Nicholas Coppard, Jonathon M. Cooper, Martin B. Delatycki, Alexandra Dürr, Nicholas A. Di Prospero, Paola Giunti, David R. Lynch, J. B. Schulz, Christian Rummey and Thomas Meier Brain (2013) 136 (1): 259-268. doi: 10.1093/brain/aws309 Posted: 02-04-2013 - Partially FARA Funded FARA News
Feb 28, 2013
![]() Rare Diseases Touch Lives
Feb 26, 2013
![]() High school faculty raises money for student's disease
Related Story: Kid to Know's resilience inspires others
Feb 18, 2013
Press Release: for Rare Disease Day Virtual Event to Raise Awareness taking place February 21 - 28
Feb 12, 2013
Action Alert: Write your Senators & Congressperson in the next 24-48 hours about NIH and FDA budget cuts
Feb 5, 2013
![]() (Watch on YouTube) Thank you Tampa Bay Lightning for raising incredible awareness of FA! |
March 23, 2013
A Night of Mystery Masquerade Ball to Cure Friedreich's Ataxia Mineral Wells, WV Contact: Melissa Gordon |





















