Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target

Hum Mol Genet. 2009 Apr 17. [Epub ahead of print]
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH.
Program in Neurogenetics, Department of Neurology David Geffen School of Medicine, University of California at Los Angeles, CA 90095.

OPEN ACCESS:

http://hmg.oxfordjournals.org/cgi/content/full/18/13/2452

http://hmg.oxfordjournals.org/cgi/reprint/18/13/2452.pdf

Brain iron homeostasis and neurodegenerative disease

Citation:

Neurology, Vol. 72, Issue 16, 1436-1440, April 21, 2009
CLINICAL IMPLICATIONS OF NEUROSCIENCE RESEARCH

Brain iron homeostasis and neurodegenerative disease
Eduardo E. Benarroch

Article topics:
Physiology..Transferrin
Medicine..Genes
Medicine..Iron Metabolism
Cell Biology..Endothelial Cells
Physiology..Homeostasis
Medicine..Gene Expression
Medicine..Genetics
Medicine..Neurodegenerative Diseases
Medicine..Cardiovascular Genetics
Biochemistry..Ferritin
Medicine..Friedreich Ataxia
Biochemistry..Pantothenate Kinase
Cell Biology..Astrocytes
Biochemistry..Kinases
Medicine..Ataxia

http://www.neurology.org/cgi/content/citation/72/16/1436?rss=1

E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence.

Mutat Res.Author manuscript; available in PMC 2009 February 10.
Published in final edited form as:
Mutat Res. 2009 February 10; 661(1-2): 71–77.
Published online 2008 November 13. doi: 10.1016/j.mrfmmm.2008.11.003. PMCID: PMC2637364
NIHMSID: NIHMS83510

Copyright notice and Disclaimer
E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA·TTC)n sequence
Rebecka L. Bourn,1 Paul M. Rindler,1 Laura M. Pollard,1 and Sanjay I. Bidichandani1,2
1Department of Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
2Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
Address all correspondence and requests for reprints to: Sanjay I. Bidichandani, MBBS, PhD, 975 NE 10th St., BRC458, Oklahoma City, OK 73104, USA, Tel: (405) 271-1360, Fax: (405) 271-3910, Email: Sanjay-Bidichandani@ouhsc.edu
The publisher's final edited version of this article is available at Mutat Res.


Keywords: mismatch repair, triplet repeat instability, GAA triplet repeat, replication fork stalling

SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.

http://www.ncbi.nlm.nih.gov/pubmed/19370769?dopt=Abstract

Hum Mutat. 2009 Mar 3. [Epub ahead of print]

SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.

Faruq M, Scaria V, Singh I, Tyagi S, Srivastava AK, Mukerji M.Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology-Council of Scientific and Industrial Research (IGIB-CSIR), Delhi, India.



The database is accessible online at http://miracle.igib.res.in/ataxia. Hum Mutat 30:1-6, 2009. (c) 2009 Wiley-Liss, Inc.PMID: 19370769 [PubMed - as supplied by publisher]

NOTE: Direct link to FXN information (http://miracle.igib.res.in/ataxia/home.php?select_db=FXN )

Infrared thermography as an access pathway for individuals with severe motor impairments

Infrared thermography as an access pathway for individuals with severe motor impairments
Negar Memarian , Anastasios N Venetsanopoulos and Tom Chau
Journal of NeuroEngineering and Rehabilitation 2009, 6:11doi:10.1186/1743-0003-6-11

http://www.jneuroengrehab.com/content/6/1/11

Published:
16 April 2009

The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production http://www.jneuroengrehab.com/content/pdf/1743-0003-6-11.pdf

Enfermedades raras-ANALES DEL SISTEMA SANITARIO DE NAVARRA

http://www.cfnavarra.es/salud/anales/textos/suple31_2.htm

ANALES DEL SISTEMA SANITARIO DE NAVARRA
Enfermedades raras
Vol. 31, suplemento 2, 2008

The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies

http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T3R-4SX3NP0-D&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=44757feb1cd3228a6ef48eea38534a90

doi:10.1016/j.addr.2008.05.001


Copyright © 2008 Published by Elsevier B.V.
The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies

References and further reading may be available for this article. To view references and further reading you must purchase this article.


M.A. Tarnopolsky, a,
aDepartment of Pediatrics and Medicine, McMaster University, 1200 Main St. W., HSC-2H26, Hamilton, Ontario, Canada L8N 3Z5

Received 23 April 2008; accepted 2 May 2008. Available online 4 July 2008.

Alpha lipoic acid and frataxin: A new indication for an old antioxidant?

http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WFG-4W2W5M9-4&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=446442ddfc68762ae8d5723da8aee971 doi:10.1016/j.expneurol.2009.04.001
Copyright © 2009 Published by Elsevier Inc.

Discussion

Alpha lipoic acid and frataxin: A new indication for an old antioxidant?

References and further reading may be available for this article. To view references and further reading you must purchase this article.
James W. Russell, a, aDepartment of Neurology, University of Maryland School of Medicine & Maryland VA Medical Center, 22 South Greene Street, Box 175, Baltimore, MD 21201-1595, USA
Received 6 March 2009; revised 7 April 2009; accepted 7 April 2009. Available online 15 April 2009.

Low-dose idebenone treatment in Friedreich's ataxia with and without cardiac hypertrophy.

http://www.ncbi.nlm.nih.gov/pubmed/19363628?dopt=AbstractPlus&holding=f1000,f1000m,isrctn

J Neurol. 2009 Apr 12. [Epub ahead of print]

Low-dose idebenone treatment in Friedreich's ataxia with and without cardiac hypertrophy.

Rinaldi C, Tucci T, Maione S, Giunta A, De Michele G, Filla A.
Department of Neurological Sciences, University of "Federico II", Via Pansini, 5, 80131, Naples, Italy, rinaldi.ca@gmail.com.

Creating Ideal Neural Cells For Clinical Use

http://www.sciencedaily.com/releases/2009/04/090413141303.htm

Creating Ideal Neural Cells For Clinical Use
ScienceDaily (Apr. 13, 2009) — Investigators at the Burnham Institute for Medical Research (Burnham) have developed a protocol to rapidly differentiate human embryonic stem cells (hESCs) into neural progenitor cells that may be ideal for transplantation.