The balancing act of DNA repeat expansions

The balancing act of DNA repeat expansions. Jane C Kim, Sergei M Mirkin; Current Opinion in Genetics & Development, Available online 29 May 2013, http://dx.doi.org/10.1016/j.gde.2013.04.009,

Keywords: repeat expansions, replication, repair, recombination, transcription.

Friedreich's ataxia associated with subaortic membrane : A rare case.

Friedreich's ataxia associated with subaortic membrane : A rare case. Doğan A, Aksoy H, Simşek H., Herz. 2013 May 29.

No Abstract

An Optimized Pyrimidinol Multifunctional Radical Quencher

An Optimized Pyrimidinol Multifunctional Radical Quencher. Omar M. Khdour , Pablo M. Arce , Basab Roy , and Sidney M. Hecht; ACS Med. Chem. Lett., Just Accepted Manuscript, DOI: 10.1021/ml400130z, Publication Date (Web): May 28, 2013

Keywords: aza analogues (4-9) of idebenone, to attenuate oxidative stress, Friedreich’s ataxia (FRDA), mitochondrial and neurodegenerative diseases, FRDA, Alzheimer's disease.

Facile Electrochemical Biosensor Based on a New Bifunctional Probe for Label-Free Detection of CGG Trinucleotide Repeat

Facile Electrochemical Biosensor Based on a New Bifunctional Probe for Label-Free Detection of CGG Trinucleotide Repeat. Hanping He, Jingping Xia, Xiaoqian Peng, Gang Chang, Xiuhua Zhang, Yafen Wang, Kazuhiko Nakatani, Zhaowen Lou, Shengfu Wang. Biosensors and Bioelectronics, Available online 28 May 2013, http://dx.doi.org/10.1016/j.bios.2013.05.022

The strategy should have significant potential for the development of versatile and low-cost biosensor for early diagnosis and treatment of neurodegenerative diseases associated with trinucleotide repeats.

Keywords: Electrochemical biosensor, Trinucleotide repeat, Ferrocenyl modified naphthyridine derivative,

A NEURONAL MODEL OF NEURODEGENERATIVE DISEASE: OXIDATIVE STRESS IN THE AXONAL DAMAGE.

A NEURONAL MODEL OF NEURODEGENERATIVE DISEASE: OXIDATIVE STRESS IN THE AXONAL DAMAGE. Emanuela Piermarini, Barbara Carletti, Giulia Tozzi, Lorena Travaglini, Anna Pastore, Alessandra Torraco, Enrico Bertini and Fiorella Piemonte. RIUNIONI SCIENTIFICHE SULLA RICERCA BIOMEDICA DELL’OSPEDALE PEDIATRICO BAMBINO GESU’ E DELL’UNIVERSITA’ ROMA TRE
Martedì 28 Maggio 2013 “Stress ossidativo e patologie correlate”

Keywords: Neurons, oxidative stress, axonal damage, neuronal cell models, Friedreich’s Ataxia (FRDA), ate this neuronal cell model, shRNA lentiviral vector, axonal pathological profile of FRDA, reduced glutathione.

Increased prevalence of sleep-disordered breathing in Friedreich ataxia.

Increased prevalence of sleep-disordered breathing in Friedreich ataxia. Corben LA, Ho M, Copland J, Tai G, Delatycki MB.; Neurology. 2013 May 22. doi: 10.1212/WNL.0b013e318297ef18

Keywords: sleep-disordered breathing (SDB), Epworth Sleepiness Scale, obstructive sleep apnea syndrome.

High-dose thiamine improves the symptoms of Friedreich's ataxia

High-dose thiamine improves the symptoms of Friedreich's ataxia. Antonio Costantini, Rafaela Giorgi, Sonia D'Agostino, Maria Immacolata Pala. BMJ Case Reports 2013; doi:10.1136/bcr-2013-009424

Keywords: Friedreich's ataxia (FRDA), thiamine deficiency.

Iron-Sulfur Cluster Proteins Discussion Meeting 2013

Iron-Sulfur Cluster Proteins Discussion Meeting 2013. NIMR 19 April.

The meeting attracts excellent scientists from across the UK and the world and provides a great forum for informal discussions on topics related to iron-sulfur cluster structure, function, evolution and biogenesis. Annalisa Pastore

Program and abstracts

Perceived Effectiveness and Barriers to Physical Therapy Services for Families and Children With Friedreich Ataxia.

Perceived Effectiveness and Barriers to Physical Therapy Services for Families and Children With Friedreich Ataxia. Maring, Joyce PT, DPT, EdD; Croarkin, Earllaine PT, NCS; Morgan, Sylvia PT, DPT; Plack, Margaret PT, EdD.; Pediatr Phys Ther. 2013 May 16. doi: 10.1097/PEP.0b013e31828ed7cb

Keywords:physical therapy interventions, Friedreich ataxia (FA), barriers to therapy.

RG2833 is Well-Tolerated and Increases Frataxin Gene Activity

RG2833 is Well-Tolerated and Increases Frataxin Gene Activity. by Amy Madsen on May 17, 2013, Quest Magazine Online (MDA)


Article Highlights:

-Interim results from a clinical trial of RG2833 in people with Friedreich’s ataxia (FA) show that the experimental drug is well-tolerated, and that it appears to act by increasing frataxin gene activity (frataxin protein deficiency is the cause of FA).
-The main aim of the ongoing trial is to assess the safety of RG2833 in people with FA.
-Through its translational research program, MDA has awarded Repligen two grants, totaling more than $1.7 million, to fund development of RG2833 for FA.
-While the encouraging results are an important step forward in finding new drugs, Repligen's Jim Rusche said more tests will be required before a drug like this can be available as a safe and effective treatment for FA.