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

Transcranial ultrasound in adults and children with movement disorders

Transcranial ultrasound in adults and children with movement disorders; Jan Liman, Mathias Bähr, Pawel Kermer; Perspectives in Medicine, Volume 1, Issues 1–12, September 2012, Pages 349-352

Keywords: Ultrasound, Child, Pediatric, Movement disorder, TCS, Friedreich's Ataxia.

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection; Arce, Pablo M.; Goldschmidt, Ruth; Khdour, Omar M.; Madathil, Manikandadas M.; Jaruvangsanti, Jennifer; Dey, Sriloy; Fash, David M.; Armstrong, Jeffrey S.; Hecht, Sidney M.; Bioorganic & Medicinal Chemistry , Volume 20 (17), Elsevier Sep 1, 2012

Keywords: Idebenone, Friedreich's Ataxia, pyridinol analogues, electron transport chain, mitichondrial function.

Friedreich ataxia and bladder disorders

Friedreich ataxia and bladder disorders; E. Guettard, M. Campech, C. Mignard, M. Masanovic; Annals of Physical and Rehabilitation Medicine, Volume 55, Supplement 1, October 2012, Page e377

Keywords: Friedreich ataxia, Bladder disorders, Quality of life.

Sniffing out the cerebellum

Sniffing out the cerebellum; Henry Houlden; J Neurol Neurosurg Psychiatry 2012;83:952-953 doi:10.1136/jnnp-2012-303136

Keywords: cerebellum, primary motor control organ, coordination, motor learning, attention, cognition, olfactory processing, Alzheimer's disease (AD), idiopathic Parkinson's disease (PD), spinocerebellar (SCA) Friedreich's ataxia.

Human mitochondrial ferritin improves respiratory function in yeast mutants deficient in iron-sulfur cluster biogenesis, but is not a functional homologue of yeast frataxin.

Human mitochondrial ferritin improves respiratory function in yeast mutants deficient in iron-sulfur cluster biogenesis, but is not a functional homologue of yeast frataxin.Sutak R, Seguin A, Garcia-Serres R, Oddou JL, Dancis A, Tachezy J, Latour JM, Camadro JM, Lesuisse E.; Microbiologyopen. 2012 Jun;1(2):95-104.

Keywords: human mitochondrial ferritin, frataxin-deficient yeast cells (Δyfh1), mitochondrial iron, insoluble particles of ferric phosphate, deficient in [Fe-S] assembly, functional homologue.

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells; Yu Zhang, Alexander A. Shishkin, Yuri Nishida, Dana Marcinkowski-Desmond, Natalie Saini, Kirill V. Volkov, Sergei M. Mirkin, Kirill S. Lobachev; Molecular Cell, Available online 6 September 2012, http://dx.doi.org/10.1016/j.molcel.2012.08.002

Keywords: Triplex structure-forming GAA/TTC repeats, gene inactivation, Friedreich’s ataxia, chromosomal fragile sites, chromosomal rearrangements, DNA replication.

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia;Sunil Sahdeo, Mark Pook, Marek Napierala, Joe Sarsero, Gino Cortopassi; Mitochondrion, Volume 12, Issue 5, September 2012, Pages 571-572, http://dx.doi.org/10.1016/j.mito.2012.07.056

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Neurodegenerative disease: Microglia in early disease stages

Neurodegenerative disease: Microglia in early disease stages; Katie Kingwell; Nature Reviews Neurology 8, 475 (September 2012) | doi:10.1038/nrneurol.2012.172

Keywords: neurodegenerative diseases, microglia-mediated CNS inflammation, therapeutic targets and strategies.