Opportunities in systems biology to discover mechanisms and repurpose drugs for CNS diseases

Opportunities in systems biology to discover mechanisms and repurpose drugs for CNS diseases. Hongkang Mei, Tian Xia, Gang Feng, Jason Zhu, Simon Lin, Yang Qiu. Drug Discovery Today, Available online 29 June 2012. DOI: http://dx.doi.org/10.1016/j.drudis.2012.06.015

Keywords: Therapies, central nervous system (CNS) diseases, therapeutic targets, deciphering disease mechanisms, Multiple Level Network Modeling (MLNM) analysis.

The biomechanics of the reaching movement in Friedreich and stroke patients

The biomechanics of the reaching movement in Friedreich and stroke patients. M. Caimmi, M. Malosio, N. Pedrocchi, F. Vicentini, L. Molinari Tosatti, F. Molteni. Gait & Posture, Volume 36, Issue null, Page S88. DOI: http://dx.doi.org/10.1016/j.gaitpost.2011.10.331

Tat-Frataxin protects dopaminergic neuronal cells against MPTP-induced toxicity in a mouse model of Parkinson’s disease

Tat-Frataxin protects dopaminergic neuronal cells against MPTP-induced toxicity in a mouse model of Parkinson’s disease. Mi Jin Kim, Dae Won Kim, Hoon Jae Jeong, Eun Jeong Sohn, Min Jea Shin, Eun Hee Ahn, Soon Won Kwon, Young Nam Kim, Duk-Soo Kim, Jinseu Park, Won Sik Eum, Hyun Sook Hwang, Soo Young Choi. Biochimie, , Available online 14 July 2012. http://dx.doi.org/10.1016/j.biochi.2012.07.005

 Keywords: Frataxin, MPTP, Parkinson’s disease, Protein transduction domain, reactive oxygen species, dopaminergic neurons, blood brain barrier (BBB).

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.