A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia

A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia. Goldstein A.; Clinical Chemistry July 2013, doi: 10.1373/clinchem.2013.211094

Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Up-regulate Frataxin during in vitro Differentiation to Peripheral Sensory Neurons.

Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Up-regulate Frataxin during in vitro Differentiation to Peripheral Sensory Neurons. Eigentler A, Boesch S, Schneider R, Dechant G, Nat R; Stem Cells Dev. 2013 Jul 23.

KEYWORDS: induced pluripotent stem cells (iPSCs), Friedreich Ataxia (FRDA), peripheral sensory neurons, frataxin expression.

Iron metabolism in the CNS: implications for neurodegenerative diseases

Iron metabolism in the CNS: implications for neurodegenerative diseases. Tracey A. Rouault; Nature Reviews Neuroscience 14, 551–564 (2013) doi:10.1038/nrn3453

Keywords: Abnormal accumulation of brain iron, neurodegenerative diseases.

The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin

The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin. Santiago Faraj, Leandro Venturutti, Ernesto A. Roman, Cristina B. Marino-Buslje, Astor Mignone, Silvio C.E. Tosatto, José M. Delfino, Javier Santos; FEBS Open Bio, Available online 24 July 2013. http://dx.doi.org/10.1016/j.fob.2013.07.004

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Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia Activation of the Integrated Stress Response, eIF2α Phosphorylation, and the Induction of Downstream Targets

Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia : Activation of the Integrated Stress Response, eIF2α Phosphorylation, and the Induction of Downstream Targets. Michael Li-Hsuan Huang, Sutharshani Sivagurunathan, Samantha Ting, Patric J. Jansson, Christopher J.D. Austin, Matthew Kelly, Christopher Semsarian, Daohai Zhang, Des R. Richardson. The American Journal of Pathology, Available online 22 July 2013. http://dx.doi.org/10.1016/j.ajpath.2013.05.032

Stem Cells for the FA: The Court says no to the rejection of judges in Florence.

Metodo Stamina: il Tribunale dice no alla ricusazione dei giudici di Firenze. La Nazione, Firenze, Firenze, 22 luglio 2013

Stem Cells for the FA: The Court says no to the rejection of judges in Florence.

It was rejected the application for disqualification of judges filed by the parents of a 12 years old girl who suffer from a Friedreich Ataxia, the Florence court authority deny to access at "compassionate use" with the method of stem cells.

Questa volta però il lieto fine ancora non c'è, in quanto è stata respinta la richiesta di ricusazione dei giudici presentata dai genitori di una ragazzina di 12 anni affetta da una malattia degenerativa - Atassia di Friedreich - alla quale il tribunale di Firenze ha negato l'autorizzazione ad accedere alle cure compassionevoli con metodo Stamina.

Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions

Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions. Rosini F, Federighi P, Pretegiani E, Piu P, Leigh RJ, Alessandro Serra, Antonio Federico, Alessandra Rufa (2013). PLoS ONE 8(7): e69522. doi:10.1371/journal.pone.0069522

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Thus, our report suggests that memantine may have some general suppressive effect on saccadic intrusions, including both SWI and MSO, thereby restoring the capacity of reading and visual attention in these and in other recessive forms of ataxia, including Friedreich’s, in which saccadic intrusions are prominent.

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 and B. Galy. J Mol Med (Berl). 2013 July; 91(7): 871–881. Published online 2013 March 1. doi: 10.1007/s00109-013-1008-2

It opens novel avenues to study diseases associated with abnormally high IRP1 activity, such as Parkinson’s disease or Friedreich’s ataxia.

Insights into the role of oxidative stress in the pathology of Friedreich Ataxia using peroxidation resistant polyunsaturated fatty acids

Insights into the role of oxidative stress in the pathology of Friedreich Ataxia using peroxidation resistant polyunsaturated fatty acids. M.Grazia Cotticelli, Andrew M. Crabbe, Robert B. Wilson, Mikhail S. Shchepinov; Redox Biology, Available online 19 July 2013. DOI: http://dx.doi.org/10.1016/j.redox.2013.06.004

Open Access Article

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Clinical features of Friedreich's ataxia: classical and atypical phenotypes

Clinical features of Friedreich's ataxia: classical and atypical phenotypes. Michael H. Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J. Neurochem.(2013) 126 (Suppl. 1), 103–117. DOI: 10.1111/jnc.12317

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