Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs)

Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs) . Jintang Du, Erica Campau, Elisabetta Soragni, Sherman Ku, James W. Puckett, Peter B. Dervan and Joel M. Gottesfeld. J. Biol. Chem. jbc.M112.391961. First Published on July 13, 2012, doi:10.1074/jbc.M112.391961

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Therapeutic Developments in Friedreich Ataxia

Therapeutic Developments in Friedreich Ataxia. Wilson RB, J Child Neurol 2012 Jul 12. doi: 10.1177/0883073812449691.

Keywords: Friedreich ataxia, neuro- and cardiodegenerative disorder, no approved therapy, frataxin, iron, oxidative stress, mitochondrial dysfunction.

DNA mismatch repair complex MutSbeta promotes GAA·TTC repeat expansion in human cells

DNA mismatch repair complex MutSbeta promotes GAA·TTC repeat expansion in human cells. Anasheh Halabi, Scott Ditch, Jeffrey Wang and Ed Grabczyk. The American Society for Biochemistry and Molecular Biology. Jbc, First Published on July 11, 2012, doi: 10.1074/jbc.M112.356758

Keywords: Friedreich Ataxia (FRDA), GAA·TTC repeat expansion, complex MutSbeta, MSH3 subunit, potential therapeutic target.

Gene therapy matures in the clinic

Gene therapy matures in the clinic. Leonard W Seymour & Adrian J Thrasher. Nature Biotechnology 30, 588–593 (2012) doi:10.1038/nbt.2290 Published online 10 July 2012.

Highlight: "will soon enter into mainstream medicine."

A functional MRI study of motor dysfunction in Friedreich's ataxia

A functional MRI study of motor dysfunction in Friedreich's ataxia. H. Akhalghi, L. Corben, N. Georgiou-Karistianis, J. Bradshaw, M.B. Delatycki, E. Storey, G.F. Egan. Brain Research, Available online 3 July 2012. http://dx.doi.org/10.1016/j.brainres.2012.06.035

Keywords: Friedreich's ataxia, Cerebellum, Finger tapping, proximal spinal cord, cortico-cerebellar, cortico-striatal, parieto-frontal.

Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research

Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research .Payne RM, Wagner GR. J Child Neurol 0883073812448535, July 4, 2012. doi: 10.1177/0883073812448535

Keywords: Friedreich ataxia, frataxin protein, iron-binding protein, mitochondrial matrix, mitochondrial oxidant stress, hypertrophic cardiomyopathy, heart failure.

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia.

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia. Soragni E, Xu C, Plasterer HL, Jacques V, Rusche JR, Gottesfeld JM. J Child Neurol. 2012 Jul 4. [Epub ahead of print]

Keywords: histone deacetylase inhibitors, neurodegenerative diseases, 2-aminobenzamides, frataxin (FXN) gene, Friedreich ataxia.

miR-886-3p Levels Are Elevated in Friedreich Ataxia

miR-886-3p Levels Are Elevated in Friedreich Ataxia. Lata H. Mahishi, Ronald P. Hart, David R. Lynch, and Rajiv R. Ratan. The Journal of Neuroscience, 4 July 2012, 32(27): 9369-9373; doi: 10.1523/​JNEUROSCI.0059-12.2012.

Keywords: Friedreich ataxia (FRDA), frataxin (FXN) gene, FXN RNA and protein levels, Small noncoding RNAs, hsa-miR-886-3p (miR-886-3p), novel therapeutic approach, anti-miR-886-3p.

The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia.

The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia. Eigentler A, Rhomberg J, Nachbauer W, Ritzer I, Poewe W, Boesch S.

Keywords: Dysarthria, neurogenic sensorimotor speech symptom, Frenchay Dysarthria Assessment, clinical and logopedic methodology, excellent clinical tool, ataxic speech disorders.

Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma

Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma . Deutsch EC, Seyer LA, Perlman SL, Yu J, Lynch DR. J Child Neurol 0883073812448460, first published on June 29, 2012 as doi:10.1177/0883073812448460

Keywords:  Friedreich ataxia, FXN, frataxin, lateral flow immunoassay, MAP chemotherapy.