Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway. Andria Rodrigues, Jeremy Cook, Andrew Dancis, Timothy Stemmler. Wayne State University, School of medicine, Graduate Student Research Day (GSRD-XVI), Setember, 27/2012

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The Second Annual EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies) Newsletter EFACTS NEWS

TheSecond Annual EFACTS (European Friedreich’s Ataxia Consortium forTranslational Studies) Newsletter EFACTS NEWS

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia, R. Liane Ramirez, Jiang Qian, Paolo Santambrogio, Sonia Levi, Arnulf H. Koeppen. The American Journal of Cardiology, Available online 20 September 2012.

Keywords: Cardiomyopathy, Friedreich's ataxia, frataxin gene, iron (Fe)-sulfur clusters, sarcoplasmic Fe, cardiomyocyte hypertrophy, fiber necrosis, myocardial scarring, Fe, ferritin, ferroportin, zinc.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Cerebellum. 2012 Jun;11(2):488-504.

Keywords: systematic review, ataxia scales, natural history, clinical trials,ICARS, SARA, MICARS, BARS, UMSARS, FARS, NESSCA, INAS, CATSYS 2000, AFCS, CCFS CCFSw, SCAFI, FAIS, SARA, ICARS.

Mitochondrial Dynamics in Cardiovascular Health and Disease

Mitochondrial Dynamics in Cardiovascular Health and Disease ; Sang-Bing Ong, Andrew R. Hall, and Derek J. Hausenloy. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2012.4777.

Keywords: Mitochondria, mitochondrial dynamics, fission and fusion proteins, cardiovascular health and disease, identification of novel therapeutic targets.

Binaural Speech Processing in Individuals with Auditory Neuropathy

Binaural Speech Processing in Individuals with Auditory Neuropathy; Gary Rance, Monique M. Ryan, Peter Carew, Louise A. Corben, Eppie Yiu, Johanna Tan, Martin B. Delatycki; Neuroscience, Available online 13 September 2012.

Keywords: Auditory neuropathy, Friedreich's ataxia, Charcot-Marie-Tooth, Binaural, Spatial processing, (FARS) Friedreich ataxia rating scale, speech reception threshold.

Revising the concept of efficacy in the vocal therapy of neurodegenerative diseases

Revisión del concepto de eficacia en el tratamiento vocal de las enfermedades neurodegenerativas; Revising the concept of efficacy in the vocal therapy of neurodegenerative diseases; Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero; Revista de Logopedia, Foniatría y Audiología, Available online 10 September 2012

Keywords: Dysarthria, Laryngeal dysfunction, Treatment efficacy, Neurodegenerative diseases, Parkinson's disease, Respiratory insufficiency, Therapeutic outcomes, Voice and speech therapy

Palabras clave: Disartria, Disfunción laríngea, Eficacia terapéutica, Enfermedades neurodegenerativas, Enfermedad de Parkinson, Insuficiencia respiratoria, Resultados terapéuticos, Terapia vocal y del habla

Abstracts presented at the American Society of Gene & Cell Therapy’s 15th Annual Meeting, 2012, Philadelphia, Pennsylvania

317. AAV Based Gene Therapy Rescues the Murine Cardiac Phenotype Associated with Friedreich’s Ataxia
 Hélène Puccio, Brahim Belbellaa, Morgane Perdomini, Nathalie Cartier, Patrick Aubourg.


436. A Recombinant Frataxin Protein Fused witha Cell Penetrating Peptide Prevents the Death ofFibroblasts with Knock-Out Frataxin Genes
Jacques P. Tremblay,1 Zoé Coulombe,1 Pierre Chapdelaine.1

784. TALE proteins may be used to induce specific gene expression to treat some diseases

Jacques P. Tremblay, Pierre Chapdelaine, Zoé Coulombe, Joel Rousseau

835. Prospects for the Gene Therapy of Friereich’s Ataxia using Neurotrophic Factors

Yurika Katsu, Frida Loria and Javier Diaz-Nido

Will the floodgates open for gene therapy?

Nature Biotechnology 30, 805 (2012), doi:10.1038/nbt.2363 Published online, 10 September 2012

EDITORIAL.
In a matter of days, a momentous event will occur: a gene therapy will, for the first time anywhere in the Western hemisphere, be available commercially with full marketing approval. read more....

Study identifies genes associated with genomic expansions that cause disease

Simplest explanation of the scientific article : Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells