Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas. Aurélien Bayot and Pierre Rustin, Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 725635, 7 pages, 2013. doi:10.1155/2013/725635

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Friedreich's Ataxia Active Research Grants funded by MDA (Years 2013,2014,2015,2016)

Friedreich's Ataxia Active Research Grants funded by MDA (Years 2013,2014,2015,2016)

Marek Napierala Ph.D., Correction of the Friedreich’s ataxia gene defect using zinc finger nucleases (2014-2016).

Giovanni Coppola MD, Peripheral Biomarkers in Friedreich's Ataxia (2013-2014).

Ronald Mark Payne M.D., Mechanism of Heart Failure in Friedreich Ataxia (2013-2015).

Jeffrey D. Milbrandt MD, PhD, Manipulating Schwann cell metabolism to treat peripheral neuropathy (2012-2015).

David Lynch MD, PhD, Insulin resistance in Friedreich ataxia (2012-2013)

Joseph Sarsero Ph.D., Development of an improved GAA repeat expansion mouse model of Friedreich ataxia (2012-2014)

Des Richardson Ph.D., D.Sc., Development of Iron Complexes for the Treatment of Friedreich’s Ataxia (2012-2014)

Source: MDA Active Research Grants, CALENDAR YEAR(s): 2013,2014,2015,2016

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia)

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia) Mohammad Hossein Salehi, Behnam Kamalidehghan, Massoud Houshmand, Omid Aryani, Majid Sadeghizadeh, Mir Majid Mossalaeie. Molecular Biology Reports, September 2013, DOI 10.1007/s11033-013-2767-0

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Epigenetics and ncRNAs in Brain Function and Disease: Mechanisms and Prospects for Therapy

Epigenetics and ncRNAs in Brain Function and Disease: Mechanisms and Prospects for Therapy. Miguel A. Varela, Thomas C. Roberts, Matthew J. A. Wood;
Neurotherapeutics, September 2013

Keywords: non-coding RNAs (ncRNAs), epigenetic mechanisms, gene expression, microRNAs (miRNAs), MECP2, EZH2, cancer, neurological diseases.

Management of the Rigid Cavus Foot in Children and Adolescents

Management of the Rigid Cavus Foot in Children and Adolescents . Dennis S. Weiner, Kerwyn Jones, David Jonah, Martin S. Dicintio; Foot and Ankle Clinics, Available online 26 September 2013. http://dx.doi.org/10.1016/j.fcl.2013.08.007

Keywords: Rigidity; Cavus; Salvage; Midtarsal; Osteotomy

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism. Goula, Agathi-Vasiliki; Merienne, Karine. Genes 2013, 4, 375-387.

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Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients

Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients. I. Mudila, F. Mohammed, A. Srivastava; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e708-e709. http://dx.doi.org/10.1016/j.jns.2013.07.2446

Variations at positions 16 519, 4883 and 5178 suggest that these variations may act as modifier for the disease.

Voxel-based morphometry in Friedreich's ataxia: A prospective study

Voxel-based morphometry in Friedreich's ataxia: A prospective study. C. Bonilha da Silva, C.L. Yasuda, A. D'Abreu, I. Lopes-Cendes, F. Cendes, M.C. França Jr.; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e659-e660. http://dx.doi.org/10.1016/j.jns.2013.07.2285

VBM analyses showed that FRDA patients have progressive GM and WM loss in two years

Electrophysiological study of spinocerebellar ataxia and Friedreich ataxia's patients

Electrophysiological study of spinocerebellar ataxia and Friedreich ataxia's patients. B. Myftiu, E. Kocasoy Orhan, B. Baslo, Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e477. http://dx.doi.org/10.1016/j.jns.2013.07.1697

Interferon gamma as a potential therapy for Friedreich ataxia

Interferon gamma as a potential therapy for Friedreich ataxia. B. Tomassini, G. Arcuri, S. Fortuni, C. Sandi, V. Ezzatizadeh, C. Casali, I. Condo, F. Malisan, S. Al-Mahdawi, M. Pook, R. Testi; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e474. http://dx.doi.org/10.1016/j.jns.2013.07.1686

Treatment with interferon gamma, a drug currently approved for pediatric indications, shows potential as a therapy for FRDA. A phase II clinical trial, aimed at assessing tolerability of interferon gamma and the ability of interferon gamma to elevate frataxin levels in FRDA patients, is currently underway

Autosomal recessive cerebellar ataxia: A clinical and genetic study

Autosomal recessive cerebellar ataxia: A clinical and genetic study. L. Ali-Pacha, W. Hamza, S. Nouioua, C. Lagier-Tourenne, S. Assami, T. Benhassine, M. Koenig, M. Tazir. Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e468. http://dx.doi.org/10.1016/j.jns.2013.07.1665

Friedreich's ataxia was the most frequent entity, as found in the majority of studies, followed by AOA2 and AVED.

Substantia nigra hypoechogenicity is not related to Friedreich ataxia

Substantia nigra hypoechogenicity is not related to Friedreich ataxia. M. Sierra, J. Infante, J. Berciano; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e146-e147. http://dx.doi.org/10.1016/j.jns.2013.07.488

Our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS.

Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family

Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family. F.M. Branco Germiniani, A. Moro, R. Munhoz, W.O. Arruda, S. Raskin, A. Martinez, H.A.G. Teive; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e113. http://dx.doi.org/10.1016/j.jns.2013.07.381

KEYWORDS: progressive ataxia, dysarthria, dysphagia, generalized ataxia, dysmetria, loss of deep tendon reflexes, MRI, cardiomyopathy, expanded alleles, pseudodominant inheritance, intra-familial clinical polymorphism.

Chlorophyllin: A possible new therapeutic agent for increasing frataxin levels in Friedreich'/INS;s ataxia patients

Chlorophyllin: A possible new therapeutic agent for increasing frataxin levels in Friedreich'/INS;s ataxia patients. B. Sturm, B. Gmeiner, M. Hermann, B. Scheiber-Mojdehkar; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e71

Keywords: frataxin expression, chlorophyllins, unknown mechanism, green plant pigment chlorophyll, dietary, medicinal, antimutagenic, antigenotoxic, anticarcinogenic.

Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India

Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India. Pravin D. Potdar and Aarthy Raghu; Asian Journal of Neuroscience Volume 2013 (2013), Article ID 909767, 6 pages http://dx.doi.org/10.1155/2013/909767

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Le diabète, une complication pas si rare de l’ataxie de Friedreich

Le diabète, une complication pas si rare de l’ataxie de Friedreich. E. Personeni, L. Meillet, A.S. Arbey, F. Schillo, A. Penfornis; Annales d'Endocrinologie, Volume 74, Issue 4, September 2013, Page 404. Annales d'Endocrinologie, Volume 74, Issue 4, September 2013, Pages 404, 30e Congrès de la Société Française d'Endocrinologie. http://dx.doi.org/10.1016/j.ando.2013.07.584

Multidisciplinary approach to rare diseases – Friedreich's ataxia

PP3.5 – 1554 Multidisciplinary approach to rare diseases – Friedreich's ataxia. M Malenica, M Kukuruzovic, G Krakar, L Cvitanovic-Sojat; European Journal of Paediatric Neurology, Volume 17, Supplement 1, September 2013, Page S37. http://dx.doi.org/10.1016/S1090-3798(13)70125-9

"the need for continuous multidisciplinary approach to patients with FA which in our patient so far includes a pediatric neurology specialist, pediatric cardiology specialist, pediatric nephrology specialist, physical therapy specialist, ENT specialist, ophthalmologist, and psychologist

OLIGOTHERAPEUTIC STRATEGIES FOR THE TREATMENT OF FRIEDREICH’S ATAXIA

OLIGOTHERAPEUTIC STRATEGIES FOR THE TREATMENT OF FRIEDREICH’S ATAXIA. F. Ozsolak, D. Jun Li, D. Parekh, D. Knowlton, M. Wysk, R. Subramanian, J. Barsoum RaNA Therapeutics. Poster 2269T. American Society of Human Genetics (ASHG) 2013 Annual Meeting, Octubre, 22-26, Boston.

KEYWORDS: Friedreich’s ataxia (FRDA), frataxin (FXN), non-coding RNA (ncRNA), oligonucleotide-based therapeutic approaches.

Rapid DNA Methylation Analysis of the FXN gene in Friedreich

Rapid DNA Methylation Analysis of the FXN gene in Friedreich. S. Al-Mahdawi, C. Sandi, M. A. Pook; Poster 488T. American Society of Human Genetics (ASHG) 2013 Annual Meeting, Octubre, 22-26, Boston.

KEYWORDS: Friedreich ataxia (FRDA), frataxin, epigenetic changes, heterochromatin formation, DNA methylation, GAA repeat, histone acetylation and methylation, specific ‘methylscreen’ restriction enzyme digestion, qPCR-based protocols,. to more rapidly quantify DNA methylation at four of the upstream CpG sites, rapid detection of DNA methylation.

Job Advertisement-Postdoctoral researcher in Robert Debré hospital, Paris

Job Advertisement-Postdoctoral researcher in Robert Debré hospital, Paris.

Specific focus will be on the generationof zebrafish transgenic lines using TALE Nuclease technologies

EFACTS – Recruitment Target Exceeded

EFACTS – Recruitment Target Exceeded

White Matter Changes in Patients with Friedreich Ataxia after Treatment with Erythropoietin Journal of Neuroimaging

White Matter Changes in Patients with Friedreich Ataxia after Treatment with Erythropoietin Journal of Neuroimaging . Karl Egger, Christian Clemm von Hohenberg, Michael F. Schocke, Charles R.G. Guttmann, Demian Wassermann, Marlene C. Wigand, Wolfgang Nachbauer, Christian Kremser, Brigitte Sturm, Barbara Scheiber-Mojdehkar, Marek Kubicki, Martha E. Shenton and Sylvia Boesch. Journal of Neuroimaging. doi: 10.1111/jon.12050.

The diffusivity changes appear disease unspecific.

Gene Therapy Emerges From Disgrace to Be the Next Big Thing, Again

Gene Therapy Emerges From Disgrace to Be the Next Big Thing, Again. By Carl Zimmer 08.13.13. Wired Science wired.com. Wired Science Blogs/Genetic future

The complex world of proteins: Structure, function, and oligomerization of frataxin

The complex world of proteins: Structure, function, and oligomerization of frataxin. Christopher Söderberg; University dissertation from Department of Chemistry, Lund University (2013-09-27)

Keywords: Friedreich's ataxia, Frataxin, self-assembly, protein-protein interaction, iron homeostasis, SAXS, cross-linking.

Full text is not available.

The legal imperative for treating rare disorders

The legal imperative for treating rare disorders. Hanna I Hyry, Jonathan CP Roos, Jeremy Manuel and Timothy M Cox; Orphanet Journal of Rare Diseases 2013, 8:135 doi:10.1186/1750-1172-8-135

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Mitochondrial iron transport and homeostasis in plants

Mitochondrial iron transport and homeostasis in plants. Anshika Jain and Erin L. Connolly. Front. Plant Sci., 06 September 2013 | doi: 10.3389/fpls.2013.00348

"Frataxin functions in plants"

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How to Design a Cell or Gene Therapy Clinical Trial: Advice from the FDA

How to Design a Cell or Gene Therapy Clinical Trial: Advice from the FDA. Adrian P. Gee; Molecular Therapy (2013); 21 9, 1639–1640. doi:10.1038/mt.2013.172

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Friedreich's ataxia research leads to a new understanding of the disease

Friedreich's ataxia research leads to a new understanding of the disease .

06/09/2013. Researchers at the University of Minnesota are using magnetic resonance spectroscopy to better understand how Friedreich's ataxia affects both the brain and spinal cord.

Ataxie de Friedreich : essai ACTFRIE

Ataxie de Friedreich : essai ACTFRIE.

L'objectif de l'essai ACTFRIE, soutenu financièrement par l'AFM-Téléthon, est d'évaluer l'efficacité de la pioglitazone comparativement à un placebo sur l'atteinte neurologique des personnes atteintes de maladie de Friedreich.

Les 40 participants prévus pour cet essai sont inclus. L'essai, qui a démarré en décembre 2008, est toujours en cours. Sa fin est prévue en avril 2014 et les premiers résultats pourraient être disponibles fin 2014.

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like. Une implication mitochondriale chez un patient tunisien atteint d’une ataxie de Friedreich-like. M. Maalej, E. Mkaouar-Rebai, M. Mnif, N. Mezghani, I. Ben Ayed, I. Chamkha, M. Abid, F. Fakhfakh; Pathologie Biologie, Available online 4 September 2013

Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the FXN Locus

Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the FXN Locus . Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A. Pook; PLoS ONE 8(9): e74956. doi:10.1371/journal.pone.0074956


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A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins

A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins. Pierre Chapdelaine, Zoé Coulombe, Amina Chikh, Catherine Gérard and Jacques P Tremblay. Molecular Therapy Nucleic Acids (2013) 2, e119; doi:10.1038/mtna.2013.41
Published online 3 September 2013.

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