Friday, February 25, 2011

Regulation of cellular iron metabolism

Biochem. J. (2011) 434 (365–381)

Jian Wang*† and Kostas Pantopoulos*†‡1
*Department of Biochemistry, University of Texas Southwestern Medical Center, U.S.A. †Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Canada.
‡Department of Medicine, McGill University, Canada

Keywords: frataxin, ferritin, ferroportin, iron-regulatory protein 1 (IRP1), iron-regulatory protein 2 (IRP2), iron–sulfur cluster (ISC), transferrin receptor (TfR).

Full text pdf

Thursday, February 24, 2011

Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)

First Received: February 22, 2011 Last Updated: February 23, 2011

Sponsor: Santhera Pharmaceuticals
Information provided by: Santhera Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01303406

Locations: United Kingdom, The National Hospital, University College London

Principal Investigator: Paola Giunti, M.D, Institute of Neurology, The National Hospital, University College London

The potential application of iron chelators for the treatment of neurodegenerative diseases.

Metallomics. 2011 Feb 22. [Epub ahead of print]

Hider RC, Roy S, Ma YM, Le Kong X, Preston J.

King's College London, Institute of Pharmaceutical Science, London

Keywords: neurodegenerative disease, Alzheimer's disease, Parkinson's disease, Friedreich's ataxia, Hallervorden Spatz syndrome and macular degeneration, redox active metals, copper, iron, selective chelation.

Wednesday, February 23, 2011

International Study Shows That Reprogramming Cells Leads To Genomic Aberrations

Medical News Today, Article Date: 22 Feb 2011

"It's a discordant note in the symphony of good news that usually accompanies stem cell research announcements."

"The scientists draw the conclusion that reprogrammed stem cells need to be extensively investigated before they can even be considered for use in regenerative medicine."

Read more ...

First Trial To Compare Autologous Cells With Donor Cells For Dilated Cardiomyopathy

Medical News Today, Article Date: 22 Feb 2011

"complement of trials being offered at UHealth broadens the availability of experimental therapy to patients and offers an alternative to the growing trend of medical tourism for cell based therapies." (University of Miami Miller School of Medicine) Read more ...

Monday, February 21, 2011

Neuronal Activity Controls the Antagonistic Balance Between Peroxisome Proliferator-Activated Receptor-γ Coactivator-1α and Silencing Mediator of Retinoic Acid and Thyroid Hormone Receptors in Regulating Antioxidant Defenses

Antioxidants & Redox Signaling (14, 000–000). -Online Ahead of Print: February 20, 2011-. doi:10.1089/ars.2010.3568.

Francesc X. Soriano, Frédéric Léveillé, Sofia Papadia, Karen F.S. Bell, Clare Puddifoot, Giles E. Hardingham.

Centre for Integrative Physiology, University of Edinburgh

Keywords: Transcriptional coactivators and corepressors, multiple targets, coactivator peroxisome proliferator-activated receptor-γ coactivator (PGC)-1α, Huntington's, antioxidant defenses, mitochondrial biogenesis, retinoic acid and thyroid hormone receptors (SMRT), implications for neuronal viability.

Saturday, February 19, 2011

Transition to adult care for children with chronic neurological disorders

Annals of Neurology, 2011, DOI: 10.1002/ana.22393

Peter Camfield MD, Carol Camfield MD

"We make a series of suggestions about how to improve the transition/transfer process with the hope of better medical and social adult outcome for children with neurological disorders."

Friday, February 18, 2011

Quantification of Circulating Plasma DNA in Friedreich's Ataxia and Spinocerebellar Ataxia Types 2 and 12

DNA and Cell Biology. null, Vol. 0, No. 0, Online Ahead of Print: February 17, 2011. doi:10.1089/dna.2010.1165.

Vishnu Swarup, Achal K. Srivastava, Madakasira V. Padma, Moganty R. Rajeswari.
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Keywords: DNA triplet repeat expansion, Friedreich's ataxia, spinocerebellar ataxias (SCAs), multisystem neurodegenerative disorders, Cell-free circulating DNA in plasma, clinical diagnosis, International Co-operative Ataxia Rating Scale, plasma DNA, PicoGreen fluorescent assay, neuronal and muscular degeneration.

Friday, February 11, 2011

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Journal of the Neurological Sciences, doi:10.1016/j.jns.2011.01.010

Arnulf H. Koeppen

VA Medical Center, 113 Holland Ave, and Albany Medical College, 47 New Scotland Ave, Albany, NY 12208 USA, Available online 10 February 2011.

Keywords: Cardiomyopathy; Dentate nucleus; Dorsal root ganglion; Frataxin; Friedreich's ataxia; GAA trinucleotide repeats; Iron; Transcription

Tuesday, February 8, 2011

Gene therapy finds its niche

Nature Biotechnology Volume: 29, Pages: 121–128 Year published:(2011)
doi:10.1038/nbt.1769

Cormac Sheridan

Gene therapy is finally poised to make a contribution to the treatment of debilitating, highly penetrant genetic diseases that have proved intractable to other regimens.