Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia

http://www.clinicaltrials.gov/ct2/show/NCT00824512?term=friedreich

Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia

Rethinking The Genetic Theory Of Inheritance

http://www.sciencedaily.com/releases/2009/01/090118200632.htm

Rethinking The Genetic Theory Of Inheritance

An advance online publication of this study will be available on the Nature Genetics website on January 18, 2009.
Adapted from materials provided by Centre for Addiction and Mental Health, via EurekAlert!, a service of AAAS

Efficient gene delivery to the adult and fetal CNS using pseudotyped non-integrating lentiviral vectors

http://www.nature.com/gt/journal/vaop/ncurrent/abs/gt2008186a.html
Efficient gene delivery to the adult and fetal CNS using pseudotyped non-integrating lentiviral vectors
A Rahim1,2,3, A M S Wong4, S J Howe2, S M K Buckley3, A D Acosta-Saltos1, K E Elston4, N J Ward2, N J Philpott2, J D Cooper4, P N Anderson5, S N Waddington3, A J Thrasher2,6 and G Raivich1,5
1Perinatal Brain Protection and Repair Group, Department of Obstetrics and Gynaecology, University College London, London, UK
2Molecular Immunology Unit, Centre for Immunodeficiency, Institute of Child Health, University College London, London, UK
3Department of Haematology, Haemophilia Centre and Haemostasis Unit, Royal Free and University College Medical School, London, UK
4Pediatric Storage Disorders Laboratory, Department of Neuroscience, Institute of Psychiatry, Kings College London, London, UK
5Department of Anatomy and Developmental Biology, University College London, London, UK
6Great Ormond Street Hospital NHS Trust, London, UK
Correspondence: Dr AJ Thrasher, Molecular Immunology Unit, Centre for Immunodeficiency, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. E-mail: a.thrasher@ich.ucl.ac.uk
Received 12 June 2008; Revised 2 December 2008; Accepted 3 December 2008; Published online 22 January 2009.

Lateral-flow immunoassay for detecting drug-induced inhibition of mitochondrial DNA replication and mtDNA-encoded protein synthesis.

http://www.ncbi.nlm.nih.gov/pubmed/19152798?dopt=Abstract


Lateral-flow immunoassay for detecting drug-induced inhibition of mitochondrial DNA replication and mtDNA-encoded protein synthesis.

Nadanaciva S, Willis JH, Barker ML, Gharaibeh D, Capaldi RA, Marusich MF, Will Y.

MitoSciences Inc., 1850 Millrace Drive, Eugene, OR 97403, United States.

Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0004253



Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia
Vincent Paupe1,2, Emmanuel P. Dassa1,2, Sergio Goncalves1,2, Françoise Auchère3, Maria Lönn4, Arne Holmgren4, Pierre Rustin1,2*
1 Inserm, U676, Hôpital Robert Debré, Bât. Ecran, Paris, France, 2 Faculté de médecine Denis Diderot, IFR02, Université Paris 7, Laboratoire d'Ingénierie des Protéines et Contrôle Métabolique, Paris, France, 3 Département de Biologie des Génomes, Institut Jacques Monod (UMR 7592 CNRS - Universités Paris 6 & 7), Paris, France, 4 Medical Nobel Institute for Biochemistry, Department of Medical Biochemistry and Biophysics Karolinska Institutet, Stockholm, Sweden

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

http://www.ncbi.nlm.nih.gov/pubmed/19339254?dopt=Abstract

Brain. 2009 Mar 31. [Epub ahead of print]
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Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM.

1 Department of Neurology, Ullevål University Hospital, Oslo, Norway.

]

Rewrite The Textbooks: Transcription Is Bidirectional

http://www.sciencedaily.com/releases/2009/01/090125142123.htm

Rewrite The Textbooks: Transcription Is Bidirectional

Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells.

Gene Ther. 2009 Jan 29. [Epub ahead of print]

http://www.ncbi.nlm.nih.gov/pubmed/19177134?dopt=Abstract

Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells.

Zaibak F, Kozlovski J, Vadolas J, Sarsero JP, Williamson R, Howden SE.

[1] 1Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia [2] 2Murdoch Children Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

Complex I and ATP Content Deficiency in Lymphocytes from Friedreich's Ataxia

http://cjns.metapress.com/app/home/contribution.asp?referrer=parent&backto=issue,7,28;journal,1,61;linkingpublicationresults,1:300307,1

The Canadian Journal of Neurological Sciences
Issue: Volume 36, Number 1 / January 2009
Pages: 26 - 31



Complex I and ATP Content Deficiency in Lymphocytes from Friedreich's Ataxia
Mohammad Mehdi Heidari A1, Massoud Houshmand A3, Saman Hosseinkhani A2, Shahriar Nafissi A4, Mehri Khatami A1
A1 Genetic Group, Tarbiat Modares University
A2 Biochemical Group Science School, Tarbiat Modares University
A3 Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Special Medical Center
A4 Department of Neurology, Medical Science, Tehran University, Tehran, Iran

Analysis of Diadochokinesis in Ataxic Dysarthria Using the Motor Speech Profile Program

Analysis of Diadochokinesis in Ataxic Dysarthria Using the Motor Speech Profile Program
Yu-Tsai Wanga, Ray D. Kentb, Joseph R. Duffyc, Jack E. Thomasc

aSchool of Dentistry, National Yang-Ming University, Taipei, Taiwan;
bWaisman Center, University of Wisconsin-Madison, Madison, Wisc., and
cMayo Clinic, Rochester, Minn., USA

Decreased contractility due to energy deprivation in a transgenic rat model of hypertrophic cardiomyopathy.

J Mol Med. 2009 Feb 3. [Epub ahead of print]
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Decreased contractility due to energy deprivation in a transgenic rat model of hypertrophic cardiomyopathy.

Luedde M, Flögel U, Knorr M, Grundt C, Hippe HJ, Brors B, Frank D, Haselmann U, Antony C, Voelkers M, Schrader J, Most P, Lemmer B, Katus HA, Frey N.

Department of Cardiology, University of Heidelberg, Heidelberg, Germany.

The therapeutic importance of understanding mechanisms of neuronal cell death in neurodegenerative disease

The therapeutic importance of understanding mechanisms of neuronal cell
death in neurodegenerative disease
Molecular Neurodegeneration
Todd E Golde (tgolde@mayo.edu)

full text: http://www.molecularneurodegeneration.com/content/pdf/1750-1326-4-8.pdf

Inborn errors of metabolism as rare diseases with a specific global situation

"Hay que evitar el uso de fármacos potencialmente tóxicos mitocondriales. Entre los antibióticos son eficaces las tetraciclinas, ciprofloxacina y aminoglicósidos. Entre los antivirales hay que tener presente que los antiretrovirales pueden producir deplección mitocondrial. Entre los antiepilépticos evitar a ser posible valproico, hidantoínas y fenobarbital. Entre los anestésicos evitar etomitadato y thipentona en el síndrome de Kearns-Sayre y recordar la gran sensibilidad de estos pacientes para el antracurio y el roncuronio."

http://www.cfnavarra.es/salud/anales/textos/Vol31/sup2/suple5a.html

Inborn errors of metabolism as rare diseases with a specific global situation

Identification of novel targets for PGC-1alpha and histone deacetylase inhibitors in neuroblastoma cells.

Biochem Biophys Res Commun. 2009 Feb 6;379(2):578-82. Epub 2008 Dec 30.

Identification of novel targets for PGC-1alpha and histone deacetylase inhibitors in neuroblastoma cells.
Cowell RM, Talati P, Blake KR, Meador-Woodruff JH, Russell JW.

Department of Psychiatry, University of Alabama, Birmingham, AL 35294, USA. rcowell@uab.edu

Friedreich's ataxia impact scale: A new measure striving to provide the flexibility required by today's studies

Friedreich's ataxia impact scale: A new measure striving to provide the flexibility required by today's studies
Stefan J. Cano, PhD 1 2, Afsane Riazi, PhD 1, Anthony H.V. Schapira, MD 3, J. Mark Cooper, PhD 3, Jeremy C. Hobart, PhD 1 2 *
1Neurological Outcome Measures Unit, Institute of Neurology, University College London, London, United Kingdom
2Department of Clinical Neuroscience, Peninsula College of Medicine and Dentistry, Plymouth, United Kingdom
3Department of Clinical Neuroscience, Royal Free and University College Medical School, London, United Kingdom



*Correspondence to Jeremy C. Hobart, Senior Lecturer and Honorary Consultant Neurologist, Peninsula College of Medicine and Dentistry, Room N16, ITTC Building, Tamar Science Park, Davy Road, Plymouth, PL6 8BX Devon, United Kingdom
Potential conflict of interest: None reported.

Funded by:
Royal Free Hospital
School of Education, Murdoch University, Perth, Western Australia
Royal Society of Medicine (Ellison-Cliffe Travelling Fellowship)
MS Society of Great Britain and Northern Ireland
NHS Technology Assessment Programme

HUMAN GENES PLACED IN STEM CELLS SHOWN TO FUNCTION PROPERLY

MEDIA RELEASE Embargo 10am Tuesday 10 February 2009

HUMAN GENES PLACED IN STEM CELLS
SHOWN TO FUNCTION PROPERLY

Human genes placed in stem cells have been shown to function properly, according to new research at the Murdoch Childrens Research Institute and Melbourne University.

This is the first report showing a full length human gene can be placed in a cord blood stem cell and work properly. This shows stem cells from patients with genetic diseases may be corrected in the lab, giving hope to those living with Cystic Fibrosis and Friedreich Ataxia.

The research found that when a normal copy of a gene was put into a cord blood stem cell, it worked properly when the stem cells form nerve, bone or lung cells in the laboratory. The paper will appear in the next issue of top journal Gene Therapy.

The researchers, led by Dr Faten Zaibak and Professor Bob Williamson, took a full length human gene that codes for a protein known as "frataxin". When this gene does not work properly, affected young people develop Friedreich Ataxia, a debilitating and life-threatening neurodegenerative disorder.

"This gene was introduced into a unique population of cord blood stem cells, which have been shown to form many different types of cells in the body. In some cases, the stem cells took up the gene and switched it on. The protein from the gene was found in the cells just as if it was made from a normal copy of the gene rather than one put there in the lab," Professor Williamson said.

"The stem cells continue to grow and retain the ability to form many cell types in the laboratory, including nerve and lung cells. This is the first report showing a full length human gene can be placed in a cord blood stem cell and work properly, with the stem cell remaining active and able to continue to multiply for months. However, it still remains to be shown that the cells will work if taken from the lab and used for treatment," Dr Zaibak said.

It is universally agreed that using cord blood stem cells is ethically acceptable, and free of the controversy surrounding embryonic stem cells.

"These results suggests that the cord blood stem cells capable of forming many different tissues can be collected from the patient at birth, corrected and then returned to the patient, bypassing any immune complications," Professor Williamson said.




The researchers, who are funded by the Australian Cystic Fibrosis Research Trust and the New Zealand Cystic Fibrosis Association, hope to carry out similar experiments with the cystic fibrosis gene. Currently, the cystic fibrosis gene is difficult to insert into the cell because of its large size.

The authors emphasised that treatment is still in the future, because it is essential to show that the cells can be introduced into a patient in a way that is proven to be safe and effective.

Reduction of Hydrophilic Ubiquinones by the Flavin in Mitochondrial NADH:Ubiquinone Oxidoreductase (Complex I) and Production of Reactive Oxygen Speci

Biochemistry. 2009 Feb 16. [Epub ahead of print]


Reduction of Hydrophilic Ubiquinones by the Flavin in Mitochondrial NADH:Ubiquinone Oxidoreductase (Complex I) and Production of Reactive Oxygen Species (dagger).

King MS, Sharpley MS, Hirst J.

Medical Research Council Dunn Human Nutrition Unit, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, U.K.

The wobbly child: an approach to inherited ataxias.

http://www.ncbi.nlm.nih.gov/pubmed/19073328?dopt=Abstract



The wobbly child: an approach to inherited ataxias.
Bernard G, Shevell M.
Department of Neurology/Neurosurgery, McGill University, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

StemCells, Inc. Comments On PLoS Medicine Article Concerning Cell Transplants In Russia

StemCells, Inc. Comments On PLoS Medicine Article Concerning Cell Transplants In Russia
Main Category: Stem Cell Research
Also Included In: Transplants / Organ Donations
Article Date: 23 Feb 2009 - 4:00 PST

Genomic and biochemical approaches in the discovery of mechanisms for selective neuronal vulnerability to oxidative stress

http://www.biomedcentral.com/content/pdf/1471-2202-10-12.pdf (FULL TEXT)

Genomic and biochemical approaches in the discovery of mechanisms for selective neuronal vulnerability to oxidative stress

Xinkun Wang , Asma Zaidi , Ranu Pal , Alexander S Garrett , Rogelio Braceras , Xue-wen Chen , Mary L Michaelis and Elias K Michaelis
BMC Neuroscience 2009, 10:12doi:10.1186/1471-2202-10-12
Published:19 February 2009

New Protein May Reverse Neurodegenerative Diseases

New Protein May Reverse Neurodegenerative Diseases
Main Category: Neurology / Neuroscience
Also Included In: Biology / Biochemistry; Genetics
Article Date: 25 Feb 2009 - 2:00 PST

University of Virginia Health System
PO Box 800795
Charlottesville
VA 22908-0795
United States
http://www.healthsystem.virginia.edu

Un nuevo 'software' permite estudiar los tractos de las fibras cerebrales

Un nuevo 'software' permite estudiar los tractos de las fibras cerebrales
Una nueva técnica de imagen basada en resonancia magnética de tensor de difusión permite observar las fibras cerebrales y el deterioro que en ellas causan las distintas patologías neurológicas, determinando las diferencias entre enfermedades y ofreciendo una ayuda al diagnóstico, el tratamiento e incluso la neurocirugía.
Beatriz Peñalba 06/03/2009

Functional Protein Delivery into Neurons Using Polymeric Nanoparticles

Originally published In Press as doi:10.1074/jbc.M805956200 on January 7, 2009
J. Biol. Chem., Vol. 284, Issue 11, 6972-6981, March 13, 2009

Functional Protein Delivery into Neurons Using Polymeric Nanoparticles*

Linda Hasadsri, Jörg Kreuter, Hiroaki Hattori¶, Tadao Iwasaki¶, and Julia M. George1
From the Department of Cell and Developmental Biology and College of Medicine (Medical Scholars Program), University of Illinois Urbana-Champaign, Urbana, Illinois 61801, the Institut für Pharmazeutische Technologie, Biozentrum, Johann Wolfgang Goethe Universität, Frankfurt D-60439, Germany, the ¶Department of Advanced Medical Technology and Development, BML, Inc., 1361-1 Matoba, Kawagoe, Saitama 350-1101, Japan, and the Department of Molecular and Integrative Physiology, University of Illinois Urbana-Champaign, Urbana, Illinois 61801

The on-line version of this article (available at http://www.jbc.org) contains supplemental Figs. S1–S5.

1 To whom correspondence should be addressed: Dept. of Molecular and Integrative Physiology, 524 Burrill Hall, 407 S. Goodwin Ave, Urbana, IL 61801. Tel.: 217-244-4525; Fax: 217-333-1133; E-mail: j-george@illinois.edu.

Retinal ganglion cells neurodegeneration in mitochondrial inherited disorders

Biochim Biophys Acta. 2009 Mar 4. [Epub ahead of print]
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Retinal ganglion cells neurodegeneration in mitochondrial inherited disorders.

Carelli V, Morgia CL, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA.

Department of Neurological Sciences, University of Bologna, Italy.

OVEREXPRESSION OF MITOCHONDRIAL FERRITIN SENSITIZES CELLS TO OXIDATIVE STRESS VIA AN IRON-MEDIATED MECHANISM.

Antioxid Redox Signal. 2009 Mar 9. [Epub ahead of print]

OVEREXPRESSION OF MITOCHONDRIAL FERRITIN SENSITIZES CELLS TO OXIDATIVE STRESS VIA AN IRON-MEDIATED MECHANISM.
Lu Z, Nie G, Li Y, Soe-Lin S, Tao Y, Cao Y, Zhang Z, Liu N, Ponka P, Zhao B.
University of Minnesota, Medicine, 420 Delaware street, Medicine Cardiology Office, MMC508, minneapolis, Minnesota, United States, 55455, 6126263040, 6126264411; luxxx202@umn.edu.

Chromatin Remodeling in the Noncoding Repeat Expansion Diseases*

Originally published In Press as doi:10.1074/jbc.R800026200 on October 28, 2008
J. Biol. Chem., Vol. 284, Issue 12, 7413-7417, March 20, 2009

Chromatin Remodeling in the Noncoding Repeat Expansion Diseases*
Daman Kumari and Karen Usdin1
From the Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, Maryland 20892-0830


1 To whom correspondence should be addressed. E-mail: ku@helix.nih.gov.

An Iron-Sulfur Cluster Is Essential for the Binding of Broken DNA by AddAB-type Helicase-Nucleases*

An Iron-Sulfur Cluster Is Essential for the Binding of Broken DNA by AddAB-type Helicase-Nucleases*
Joseph T. P. Yeeles, Richard Cammack, and Mark S. Dillingham1
From the DNA-Protein Interactions Unit, Department of Biochemistry, School of Medical Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom and the Molecular Biophysics Group, Pharmaceutical Science Research Division, King's College London, London SE1 9NH, United Kingdom
The on-line version of this article (available at http://www.jbc.org) contains supplemental text and Figs. S1–S6.

A combined voxel-based morphometry and (1)H-MRS study in patients with Friedreich's ataxia.

http://www.ncbi.nlm.nih.gov/pubmed/19280106?dopt=Abstract

A combined voxel-based morphometry and (1)H-MRS study in patients with Friedreich's ataxia.

França MC Jr, D'Abreu A, Yasuda CL, Bonadia LC, Santos da Silva M, Nucci A, Lopes-Cendes I, Cendes F.

Department of Neurology, University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil, mcfrancajr@uol.com.br.

Hydrogenosomes under microscopy

http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WXF-4VVN4NH-1&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=88a208d4a6b5b9f8fd46ecf9b131966b

Hydrogenosomes under microscopy
Marlene Benchimol, a,
aUniversidade Santa Úrsula, Laboratório de Ultraestrutura Celular, Rio de Janeiro, Brazil

Evaluating the progression of Friedreich ataxia and its treatment

Evaluating the progression of Friedreich ataxia and its treatment

Martin B. Delatycki1, 2
(1) Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria, 3052, Australia
(2) Dept. of Paediatrics, University of Melbourne, Parkville, Victoria, Australia

Clinical experience with high-dose idebenone in Friedreich ataxia

http://www.springerlink.com/content/w63656q2062g2818/

Clinical experience with high-dose idebenone in Friedreich ataxia

Jörg B. Schulz1 , Nicholas A. Di Prospero2 and Kenneth Fischbeck3
(1) Dept. of Neurology, University Medical Centre, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany
(2) Johnson and Johnson Pharmaceutical Research and Development, Raritan, NJ, USA
(3) Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, MD, USA

Idebenone: An emerging therapy for Friedreich ataxia

Idebenone: An emerging therapy for Friedreich ataxia

Thomas Meier1 and Gunnar Buyse2
(1) Santhera Pharmaceuticals, Hammerstrasse 47, 4410 Liestal, Switzerland
(2) Child Neurology, University Hospitals Leuven, Leuven, Belgium

Multicellular models of Friedreich ataxia

Multicellular models of Friedreich ataxia

Hélène Puccio1
(1) IGBMC Inserm, U596, CNRS, Université Louis Pasteur, UMR7104, Collège de France, Chaire de génétique humaine, 1 rue Laurent Fries, BP10142, Illkirch, F-67400, France

Friedreich ataxia: The clinical picture

http://www.springerlink.com/content/jt7731372141671k/

Friedreich ataxia: The clinical picture

Massimo Pandolfo1
(1) Service de Neurologie, Université Libre de Bruxelles-Hôpital Erasme, Route de Lennik 808, B-1070 Bruxelles, Belgium

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

http://www.springerlink.com/content/237n26h5wj083865/

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

Massimo Pandolfo1 and Annalisa Pastore2
(1) Service de Neurologie, Hôpital Erasme – Université Libre de Bruxelles, Route de Lennik 808, B-1070 Brussels, Belgium
(2) The National Institute for Medical Research, The Ridgeway, London, NW7 1AA, UK

Stem cell-based cell therapy in neurological diseases: A review

Stem cell-based cell therapy in neurological diseases: A review

Seung U. Kim 1 2 *, Jean de Vellis 3
1Division of Neurology, Department of Medicine, UBC Hospital, University of British Columbia, Vancouver, British Columbia, Canada
2Medical Research Institute, Chungang University School of Medicine, Seoul, Korea
3Mental Retardation Research Center, University of California Los Angeles School of Medicine, Los Angeles, California

Cognitive impairment in spinocerebellar degeneration.

Eur Neurol. 2009;61(5):257-68. Epub 2009 Mar 17.
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Cognitive impairment in spinocerebellar degeneration.

Kawai Y, Suenaga M, Watanabe H, Sobue G.

Department of Neurology, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Japan.

Computer Learning, Electrical Stimulation Offer Hope For Paralyzed

http://www.medicalnewstoday.com/articles/142964.php

Computer Learning, Electrical Stimulation Offer Hope For Paralyzed

Article Date: 20 Mar 2009 - 3:00 PDT

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.

Nat Struct Mol Biol. 2009 Mar 22. [Epub ahead of print]
Related Articles

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.

Adinolfi S, Iannuzzi C, Prischi F, Pastore C, Iametti S, Martin SR, Bonomi F, Pastore A.

National Institute for Medical Research, The Ridgeway, London, UK.

Frataxin is an essential mitochondrial protein whose reduced expression causes Friedreich's ataxia (FRDA), a lethal neurodegenerative disease. It is believed that frataxin is an iron chaperone that participates in iron metabolism. We have tested this hypothesis using the bacterial frataxin ortholog, CyaY, and different biochemical and biophysical techniques. We observe that CyaY participates in iron-sulfur (Fe-S) cluster assembly as an iron-dependent inhibitor of cluster formation, through binding to the desulfurase IscS. The interaction with IscS involves the iron binding surface of CyaY, which is conserved throughout the frataxin family. We propose that frataxins are iron sensors that act as regulators of Fe-S cluster formation to fine-tune the quantity of Fe-S cluster formed to the concentration of the available acceptors. Our observations provide new perspectives for understanding FRDA and a mechanistic model that rationalizes the available knowledge on frataxin.

PMID: 19305405 [PubMed - as supplied by publisher]

La Frataxina bacteriana CyaY es el supervisor de la formación del cluster hierro-azufre catalizada por IscS.

Nat Struct Mol Biol. 2009 Mar 22.

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Adinolfi S, Iannuzzi C, Prischi F, Pastore C, Iametti S, Martin SR, Bonomi F, Pastore A.
National Institute for Medical Research, The Ridgeway, London, UK.


La Frataxina bacteriana CyaY es el supervisor de la formación del cluster hierro-azufre catalizada por IscS.
La Frataxina es una proteína mitocondrial esencial cuya expresión reducida causa la ataxia de Friedreich (FRDA), una enfermedad neurodegenerativa letal. Se cree que la frataxina es una chaperona de hierro que participa en el metabolismo del hierro. Hemos probado esta hipótesis utilizando el ortólogo bacteriano de la frataxina, CyaY, y diferentes técnicas de bioquímica y biofísica. Observamos que CyaY participa en el ensamblaje del cluster hierro-azufre (Fe-S) como un inhibidor hierro-dependiente de la formación del cluster, a través de la unión a la desulfurasa IscS. La interacción con IscS implica la unión del hierro en la superficie de CyaY, que se conserva en toda la familia frataxina. Proponemos que las frataxinas son sensores del hierro que actúan como reguladores de la formación del cluster Fe-S para afinar la cantidad de cluster Fe-S que se forma según la concentración de los aceptores disponibles. Nuestras observaciones ofrecen nuevas perspectivas para entender el FRDA y un modelo mecanicista que racionaliza los conocimientos disponibles sobre la frataxina.

Gatekeeper: no tiene una traducción exacta al español, se puede traducir como guardián, supervisor, sensor….. en el contexto en que está lo mas adecuado es “supervisor” .

Pharmacotherapy for Friedreich Ataxia

Pharmacotherapy for Friedreich Ataxia
Authors: Tsou, Amy Y.1; Friedman, Lisa S.; Wilson, Robert B.2; Lynch, David R.
Source: CNS Drugs, Volume 23, Number 3, 2009 , pp. 213-223(11)

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia.

J Med Speech Lang Pathol. 2008 Dec;16(4):173-180.Related Articles

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia.

Anderson A, Lowit A, Howell P.
University College London Gower St., London WC1E 6BT.

Study Of Cat Diet Leads To Key Nervous System Repair Discovery - Restoration Of Myelin

Study Of Cat Diet Leads To Key Nervous System Repair Discovery - Restoration Of Myelin
Main Category: Neurology / NeuroscienceAlso Included In: Multiple SclerosisArticle Date: 31 Mar 2009 - 6:00 PDT

Development of iBAC-FRDA-Luciferase Fusion Vector for the Detection of Frataxin Expression

Human Gene TherapyBSGT 2009 Oral PresentationsTo cite this paper:Human Gene Therapy. April 2009, 20(4): 389-395. doi:10.1089/hum.2009.1032.
.../...
Or 6

Development of iBAC-FRDA-Luciferase Fusion Vector for the Detection of Frataxin Expression
Lufino MMP (presenting)1, Alegre-Abarrategui J1, Lim F2, Wade-Martins R11Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3QX2Departamento de Biologı´a Molecular, Centro de Biologı´a Molecular ‘‘Severo Ochoa’’ (CSIC-UAM), Universidad Auto´noma de Madrid, Madrid, Spain