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.

Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects.

Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects.Schadt KA, Friedman LS, Regner SR, Mark GE, Lynch DR, Lin KY.J Child Neurol 0883073812448461, first published on June 29, 2012 as doi:10.1177/0883073812448461

Keywords:  Electrocardiographic (ECG) findings, Friedreich ataxia, ECG abnormalities, age, sex, shorter guanine-adenine-adenine triplet repeat length, age of disease onset, functional disability, nonspecific ST-T wave changes (53%), right axis deviation (32%), left ventricular hypertrophy (19%), right ventricular hypertrophy (13%).

Friedreich Ataxia: New Pathways.

Friedreich Ataxia: New Pathways.Pandolfo M., J Child Neurol 0883073812448534, first published on June 29, 2012 as doi:10.1177/0883073812448534

Keywords:  Friedreich ataxia, frataxin, neurologic, cardiac complications, mitochondrial biogenesis, iron-sulfur cluster synthesis, iron metabolism, antioxidant responses, mitophagy.