Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells. Sophie Lefevre, Caroline Brossas, Françoise Auchère, Nicole Boggetto, Jean-Michel Camadro, and Renata Santos. Hum. Mol. Genet. first published online June 16, 2012 doi:10.1093/hmg/dds230

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KEYWORDS: Frataxin-deficiency, mitochondrial dysfunction, oxidative stress, Friedreich ataxia, respiratory deficit, disturbed iron homeostasis, sensitivity to oxidants, Apn1 enzyme, DNA damage.

Iron and neurodegeneration: from cellular homeostasis to disease.

Iron and neurodegeneration: from cellular homeostasis to disease. Batista-Nascimento L, Pimentel C, Andrade Menezes R, Rodrigues-Pousada C.Oxid Med Cell Longev. 2012;2012:128647. Epub 2012 May 30.

 Keywords: Accumulation of iron (Fe), neurodegenerative diseases, Parkinson's, Alzheimer's, Huntington's diseases, Friedreich's ataxia, neuroferritinopathy, Fe misregulation, oxidative stress, therapeutic strategies, metalloneurobiology.

A generalizable pre-clinical research approach for orphan disease therapy

A generalizable pre-clinical research approach for orphan disease therapy. Review. Beaulieu CL, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM, MacKenzie AE. Orphanet Journal of Rare Diseases 2012, 7:39 (15 June 2012).

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Stem Cell Therapy Shows Prospects For Severe Neurological Diseases

ENS 2012. "Stem Cell Therapy Shows Prospects For Severe Neurological Diseases." Medical News Today. MediLexicon, Intl., 13 Jun. 2012. Web.

 "There are a number of highly promising research findings today, which could pave the way to completely new types of stem cell therapies for severe neurological diseases"  

At the moment, there is one central message for neurological patients: These therapies are still in an experimental stage.

Complete FXN Deletion in a Patient with Friedreich's Ataxia

Complete FXN Deletion in a Patient with Friedreich's Ataxia . Ans M.W. van den Ouweland, Rick van Minkelen, Galhana M. Bolman, Cokkie H. Wouters, Cindy Becht-Noordermeer, Wout H. Deelen, J. Marianne C. Deelen–Manders, Elly P.F. Ippel, Jasper Saris, and Dicky J.J. Halley. Genetic Testing and Molecular Biomarkers. -Not available-, ahead of print. doi:10.1089/gtmb.2012.0012.

Keywords: Friedreich's ataxia (FRDA), homozygous, GAA repeat expansion, FXN, heterozygous, point mutation, intragenic FXN deletion.

Nanotechnology—novel therapeutics for CNS disorders

Nanotechnology—novel therapeutics for CNS disorders, Review. Maya Srikanth & John A. KesslerNature Reviews Neurology 8, 307-318 (June 2012) | doi:10.1038/nrneurol.2012.76

Keywords: CNS disorders, Nanotechnology, blood–brain barrier, target specific cell, vehicles for gene delivery, promote axon elongation, support cell survival, neurodegenerative disease, malignant brain tumours, neuroregeneration.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.Rosen KM, Folker JE, Vogel AP, Corben LA, Murdoch BE, Delatycki MB.J Neurol. 2012 Jun 6. Keywords: clinical endpoints, Friedreich ataxia, dysarthria, ANOVA, acoustic measures, utterance duration, spectral changes.

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression,Tom Latham, Logan Mackay, Duncan Sproul, Muhammed Karim, Jayne Culley, David J Harrison, Larry Hayward, Pat Langridge-Smith, Nick Gilbert and Bernard H Ramsahoye. Nucl. Acids Res. (2012) 40 (11): 4794-4803. doi: 10.1093/nar/gks066

Stem cell research: Regulating translational application

Stem cell research: Regulating translational application. Nature Cell Biology 14, 557 (2012), doi:10.1038/ncb2517. Published online 30 May 2012

Keywords: stem cell research, regenerative medicine, to cure diseases, basic research, translational potential, clinical trials, adult mesenchymal stem cells, China unapproved stem cell treatments, X-Cell Center in Germany.

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy, B. Miguel, A. Hernández, J. Domínguez, C. Valencia, A. López, M.A. Del Real (Ciudad Real, ES). 22nd Meeting of the European Neurological Society, 09.06.2012 - 12.06.2012 General neurology I, Sunday, June 10, 2012, 11:30 - 12:30

Keyword: Friedreich Ataxia (FA), autosomal recessive inheritance, expanded trinucleotide (GAA) repeat, frataxin gene, neurologic dysfunction, cardiomyopathy, diabetes mellitus.