Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. Eric C Deutsch, Devin Oglesbee, Nathaniel R Greeley, David R Lynch; J Neurol Neurosurg Psychiatry jnnp-2013-306788Published Online First: 24 January 2014 doi:10.1136/jnnp-2013-306788

Keywords: Frataxin measurements, peripheral tissues, patients, carriers.

Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia.

Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia. Musegante AF, Almeida PN, Monteiro RT, Barroso U Jr.; Int Braz J Urol. 2013 Nov-Dec;39(6):867-74. doi: 10.1590/S1677-5538.IBJU.2013.06.14

Keywords: LUTS, urinary tract and urodynamics changes, urinary symptoms, Urgency.

Synthetic Analogues of Redox-Enabled Natural Products

Synthetic Analogues of Redox-Enabled Natural Products . Fash, David Michael, Department of Chemistry, University of Virginia; Doctoral Dissertation.

Keywords: Dysfunctional mitochondria, reactive oxygen species (ROS), novel quinone analogues, idebenone analogues, -Tocopherol quinone derivatives, Friedreich’s ataxia.

Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases

Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases. Mohammadmersad Ghorbani, Simon J. E. Taylor, Mark A. Pook, and Annette Payne; Journal of Nucleic Acids, Volume 2013 (2013), Article ID 689798, 9 pages. http://dx.doi.org/10.1155/2013/689798

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Mitochondrial iron–sulfur protein biogenesis and human disease

Mitochondrial iron–sulfur protein biogenesis and human disease; Oliver Stehling, Claudia Wilbrecht, Roland Lill; Biochimie, Available online 23 January 2014. http://dx.doi.org/10.1016/j.biochi.2014.01.010

Keywords:Iron–sulfur cluster; Mitochondrial ISC system; Iron regulation; Genome integrity

Anaesthesia for orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia

Anaesthesia for orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia. Huercio, Iván; Guasch, Emilia; Brogly, Nicolas; Gilsanz, Fernando; European Journal of Anaesthesiology, January 21, 2014 - Volume Publish Ahead of Print - Issue - ppg
doi: 10.1097/EJA.0000000000000041

Optimizing Mouse Models of Neurodegenerative Disorders

Optimizing Mouse Models of Neurodegenerative Disorders. Future Neurology. Cathleen M Lutz, Melissa A Osborne; Future Neurology. 2014;9(1):67-75.

This experience in SMA raises interesting questions for FRDA. Does such a threshold also exist in FRDA models, where no or too low frataxin results in embryonic lethality, but levels of 10% or more result in mice that are phenotypcially normal? Can mice simply tolerate low levels of frataxin? Alternatively, perhaps FRDA is not just a disease of low frataxin protein, but insread is one in which the GAA repeat itself plays a greater role in the disease course, beyond just inhibiting transcription. Would mouse models of higher repeat length or uninterupted repeats produce a more robust phenotype? Additional FRDA models are desperately needed in order to help address these questions.

Repligen Announces Asset Purchase Agreement With BioMarin for HDACi Portfolio

Repligen Announces Asset Purchase Agreement With BioMarin for HDACi Portfolio. Company Release - 01/21/2014 07:30. WALTHAM, Mass., Jan. 21, 2014 (GLOBE NEWSWIRE)

Repligen Corporation announced today that it has entered into an asset purchase agreement with BioMarin Pharmaceutical Inc. ("BioMarin") to advance Repligen's histone deacetylase inhibitor (HDACi) portfolio. Includes Preclinical Compounds for Potential Treatment of Friedreich's Ataxia

Mammalian Fe–S cluster biogenesis and its implication in disease

Mammalian Fe–S cluster biogenesis and its implication in disease. Lena K. Beilschmidt, Hélène M. Puccio; Biochimie, Available online 16 January 2014. http://dx.doi.org/10.1016/j.biochi.2014.01.009

Keywords: Mitochondria; Iron–sulfur cluster; Genetic disease; Mutation.

A new technic for segmental spinal osteosynthesis using the posterior approach

A new technic for segmental spinal osteosynthesis using the posterior approach . Y. Cotrel, J. Dubousset; Orthopaedics & Traumatology: Surgery & Research, Available online 18 January 2014.DOI http://dx.doi.org/10.1016/j.otsr.2013.12.009

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