Friedreich's ataxia–associated GAA repeats induce replication-fork reversal and unusual molecular junctions

Friedreich's ataxia–associated GAA repeats induce replication-fork reversal and unusual molecular junctions. Cindy Follonier, Judith Oehler, Raquel Herrador & Massimo Lopes. Nature Structural & Molecular Biology (2013), Published online 03 March 2013, doi:10.1038/nsmb.2520

Keywords: Expansion of GAA/TTC repeats, mechanisms of replication interference and expansion, in vivo replication structures at GAA repeats, replication-associated intramolecular junctions, homopurine-homopyrimidine tracts, postreplicative mechanisms.

I JORNADA DE INVESTIGACIÓN EN ATAXIA DE FRIEDREICH

I JORNADA DE INVESTIGACIÓN EN ATAXIA DE FRIEDREICH

Screening for DNA-repair gene could predict rate of progress of Huntington’s disease, muscular dystrophy

Screening for DNA-repair gene could predict rate of progress of Huntington’s disease, muscular dystrophy, Polly Thompson The Hospital for Sick Children (Canada).

The genetic repair function is also important in Friedreich’s ataxia and at least 13 other neurodegenerative and neuromuscular diseases.

Citation: Tomé S, Manley K, Simard JP, Clark GW, Slean MM, et al. (2013) MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice. PLoS Genet 9(2): e1003280. doi:10.1371/journal.pgen.1003280.

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Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function

Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function. D. Casarrubea, L. Viatte, T. Hallas, A. Vasanthakumar, R. S. Eisenstein, K. Schümann, M. W. Hentze, B. Galy. Journal of Molecular Medicine; March 2013, DOI 10.1007/s00109-013-1008-2.

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Inappropriately high IRP1 activity causes disturbed body iron distribution and erythropoiesis. This new mouse model further highlights the importance of appropriate IRP regulation in central organs of iron metabolism. Moreover, it opens novel avenues to study diseases associated with abnormally high IRP1 activity, such as Parkinson’s disease or Friedreich’s ataxia.

Les centres maladies rares en neurologie ont- ils changé les pratiques et la prise en charge dans les ataxies cérebelleuses héréditaires ?

Have centers of rare neurological diseases changed their practices and management of the hereditary cerebellar ataxias?. C. Tranchant; Revue Neurologique, Volume 169, Supplement 1, February 2013, Pages S23-S27

Les centres maladies rares en neurologie ont- ils changé les pratiques et la prise en charge dans les ataxies cérebelleuses héréditaires ?

Keywords: Recessive cerebellar ataxia, Dominant cerebellar ataxia, FXTAS, Friedreich's ataxia.

Paper in French

After ataxia withdrawal, Santhera considers strategic moves

After ataxia withdrawal, Santhera considers strategic moves. Santhera Pharmaceuticalsnews release,
February 28, 2013

What is the cost of rare diseases such as Friedreich's Ataxia?

What is the cost of rare diseases such as Friedreich's Ataxia?. Medical Xpress, February 27, 2013

What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively this rare disease costs between £11,000 and £19,000 per person per year. Proper understanding resource allocation is important in minimizing the effect of Friedreich's Ataxia on people's lives while maximizing their quality of life.

Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany. Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O'Hara, Leo Ruiz Casas and Fiona M Smith, Orphanet Journal of Rare Diseases 2013, 8:38 doi:10.1186/1750-1172-8-38

Santhera to Discontinue Sale of Catena® in Canada

Santhera to Discontinue Sale of Catena® in Canada. 12:40 EST 27 Feb 2013 | Thomson Reuters.

Liestal, Switzerland, February 27, 2013 - Santhera Pharmaceuticals (SIX: SANN) announced today the voluntary withdrawal of Catena® from the Canadian market. This decision follows review of additional data from clinical trials in patients with Friedreich's Ataxia, and subsequent consultation with Health Canada.

Santera's web page

White House announces new US open access policy

White House announces new US open access policy. Newsblog (nature.com), 22 Feb 2013, Posted by Richard Van Noorden.

In a long-awaited leap forward for open access, the US government said today that publications from taxpayer-funded research should be made free to read after a year’s delay – expanding a policy which until now has only applied to biomedical science.

With both the US and Europe supporting delayed-access to publications, the UK government looks increasingly isolated in its preference for immediate open access. That policy is due to come in from 1 April, but the details are not yet clear. Communication around the policy was yesterday criticized as “unacceptable” by a House of Lords inquiry.

Very late-onset Friedreich ataxia: later than life expectancy?

Very late-onset Friedreich ataxia: later than life expectancy?. Vincent Alvarez, Pierre Arnold, Thierry Kuntzer; Journal of Neurology February 2013. DOI:10.1007/s00415-013-6874-6