About FARA

Latest Updates


Apr 30, 2013    -    Latest Updates

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 11, 2013
FA Symposium 2013 CHOP
Save The Date! Oct 14, 2013 - 6th Annual FA Symposium

Children's Hospital of Philadelphia
April 4, 2013
Concert for a Cure
"Concert for a Cure" FARA benefit

Univ. of Rochester Yellowjackets sing their way into our hearts

May Events
May 1, 2013
Louise Aubrie - CD Release show
Manhattan, NY
Contact: John Sweeny
May 2, 2013
Putnam Valley Bible Club - Pizza Sale
Putnam Valley, NY
Contact: Carissa Burgard
May 12, 2013
5K Race for Christina
Tyler State Park
Newtown, PA
Contact: Catherine Logan
May 30, 2013
Project Adventure - Team Building Day
Beverly, MA
Contact: Jean Walsh
May 31, 2013
Spark Hope Cocktail Party
Beverly, MA
Contact: Jean Walsh
Other April Posts

New Video Posted:
Play Video
Sam's Story
Sam Bridgman and Sean Baumstark talk about Friedreich's Ataxia, and de·ter·min·ence
Ride Ataxia Announcement:
Applications for the
2013 Ataxian Athlete Initiative
are being accepted now
until July 1st, 2013!
Sign-Up for our Latest Updates Email
Mar 31, 2013    -    Latest Updates

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
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

April Events
April 5, 2013
YellowJackets Spring Show for FARA
University of Rochester
Rochester, NY
Contact: FARA
April 6, 2013
The FA Project
Striking Courage Bowlathon

North Reading, MA
Contact: Richie Currier
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
April 16, 2013
Team FARA - Sam Bridgman
Team FARA - SamJam 2013

Portland, OR
Contact: Sam Bridgman
April 28, 2013
Team FARA - Elizabeth Way
Team FARA - Elizabeth Way
Flower City Half Marathon

Rochester, NY
Contact: FARA
Other March Posts

Senator Durbin's Statement from the Senate Floor
(speaking about FA)
PDF
Sign-Up for our Latest Updates Email
Feb 28, 2013    -    Latest Updates

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 18, 2013
Press Release:
Announcing "Move YOUR Way" Initiative
for Rare Disease Day

Virtual Event to Raise Awareness
taking place February 21 - 28
Move Your Way on Facebook
Feb 6, 2013
EPI-743 Clinical Trial begins at UCLA and CHOP
Enrollment at UCLAEnrollment at CHOP
Feb 5, 2013
Tampa Bay Lightning supports FARA
FARA Spokesperson, Kyle Bryant, was honored at the Tampa Bay Lightning game on February 1, 2013 with a Team jersey by Lightning CEO Tod Lieweke in front of over 19,000 fans.
(Watch on YouTube)

Thank you Tampa Bay Lightning for raising incredible awareness of FA!

March Events
March 4 & 5, 2013
Outback Charity Nights
Multiple Locations

Contact: FARA
March 15, 2013
Fun for FARA
Maids of Athena & Caprice Night Club

Vancouver, Canada
Contact: FARA
March 18 & 19, 2013
Outback Charity Nights
Multiple Locations

Contact: FARA
March 21, 2013
Donkey Basketball
Penn Laird, VA
Contact: Natalie McCrady
March 22, 2013
Lone Star Benefit Bash
Flower Mound, TX
Contact: Performance Award Center
March 23, 2013
Ride Ataxia - rideDALLAS
Denton, TX
Contact: FARA
March 30, 2013
Rabbit Run
Bakersfield, CA
Contact: Carrie Laird
Sign-Up for our Latest Updates Email