Stem Cell Research & Therapy 2011, 2:32 doi:10.1186/scrt73, Published: 28 July 2011
Jun Peng and Xianmin Zeng
Keywords: Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Friedreich's ataxia, neurodegenerative diseases, no effective clinical therapies, human adult somatic cells, induced pluripotent stem cells (iPSCs), in vitro disease mechanism study, in vivo cell replacement therapy.
Thursday, July 28, 2011
A pilot trial of deferiprone for neurodegeneration with brain iron accumulation.
Haematologica. 2011 Jul 26. [Epub ahead of print]
Abbruzzese G, Cossu G, Balocco M, Marchese R, Murgia D, Melis M, Galanello R, Barella S, Matta G, Ruffinengo U, Bonuccelli U, Forni GL.
(Clinicaltrials.gov identifier: NTC00907283.)
Keywords: Deferiprone, Friedreich's ataxia, cerebral iron accumulation, pantothenate kinase-associated neurodegeneration, parkinsonism and focal dystonia, Magnetic resonance imaging, neurological examinations, Chelation treatment.
Abbruzzese G, Cossu G, Balocco M, Marchese R, Murgia D, Melis M, Galanello R, Barella S, Matta G, Ruffinengo U, Bonuccelli U, Forni GL.
(Clinicaltrials.gov identifier: NTC00907283.)
Keywords: Deferiprone, Friedreich's ataxia, cerebral iron accumulation, pantothenate kinase-associated neurodegeneration, parkinsonism and focal dystonia, Magnetic resonance imaging, neurological examinations, Chelation treatment.
Monday, July 25, 2011
RNA-mediated transcriptional gene silencing in Friedreich ataxia
Current Opinion in Biotechnology, Volume 22, Supplement 1, September 2011, Page S16, European Biotechnology Congress 2011
Sanjay Bidichandani, Angela Castro and Yogesh Chutake
Department of Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
You can find the abstract in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
Sanjay Bidichandani, Angela Castro and Yogesh Chutake
Department of Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
You can find the abstract in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
Saturday, July 23, 2011
Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study.
J Neurol. 2011 Jul 22. [Epub ahead of print]
Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR.
Santhera Pharmaceuticals, Liestal, Switzerland.
Keywords: idebenone, neurological function, ICARS, FARS, neurological rating scales, Friedreich's ataxia (FRDA), open-label extension study (IONIA-E), may offer a therapeutic benefit to pediatric FRDA patients.
Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR.
Santhera Pharmaceuticals, Liestal, Switzerland.
Keywords: idebenone, neurological function, ICARS, FARS, neurological rating scales, Friedreich's ataxia (FRDA), open-label extension study (IONIA-E), may offer a therapeutic benefit to pediatric FRDA patients.
Friday, July 22, 2011
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.
J Mol Cell Cardiol. 2011 Jul 12.
Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C.
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia.
Keywords:Friedreich ataxia (FRDA), expanded GAA trinucleotide repeat,frataxin gene (FXN), mitochondrial iron efflux, sensitivity to oxidative stress, variability in cardiac phenotype, genetic modifying factors, single nucleotide polymorphisms (SNPs), Renin-Angiotensin-Aldosterone system (RAAS), angiotensin-II type-1 receptor (AGTR1), angiotensin-converting enzyme (ACE), ACE2, left ventricular internal diameter in diastole (LVIDd), interventricular septal wall thickness (SWT), left ventricular mass (LVM), diastolic blood pressure, role of RAAS polymorphisms as modifiers of cardiac phenotype.
Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C.
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia.
Keywords:Friedreich ataxia (FRDA), expanded GAA trinucleotide repeat,frataxin gene (FXN), mitochondrial iron efflux, sensitivity to oxidative stress, variability in cardiac phenotype, genetic modifying factors, single nucleotide polymorphisms (SNPs), Renin-Angiotensin-Aldosterone system (RAAS), angiotensin-II type-1 receptor (AGTR1), angiotensin-converting enzyme (ACE), ACE2, left ventricular internal diameter in diastole (LVIDd), interventricular septal wall thickness (SWT), left ventricular mass (LVM), diastolic blood pressure, role of RAAS polymorphisms as modifiers of cardiac phenotype.
Structure-function analysis of Friedreich’s ataxia mutants reveals determinants for frataxin binding and activation of the Fe-S assembly complex
Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi200895k
Jennifer Bridwell-Rabb , Andrew M Winn , and David P. Barondeau
Keywords: Friedreich’s ataxia (FRDA), frataxin (FXN), GAA triplet repeat expansion, missense mutations, cysteine desulfurase, Fe-S cluster assembly activities, kcat/KM, NFS1, ISD11, ISCU2 (SDU), binding and allosteric activation of the Fe-S assembly complex.
Jennifer Bridwell-Rabb , Andrew M Winn , and David P. Barondeau
Keywords: Friedreich’s ataxia (FRDA), frataxin (FXN), GAA triplet repeat expansion, missense mutations, cysteine desulfurase, Fe-S cluster assembly activities, kcat/KM, NFS1, ISD11, ISCU2 (SDU), binding and allosteric activation of the Fe-S assembly complex.
Thursday, July 21, 2011
Rim2, pyrimidine nucleotide exchanger, is needed for iron utilization in mitochondria
Biochem. J. (2011) Immediate Publication, doi:10.1042/BJ20111036
Heeyong Yoon, Yan Zhang, Jayashree Pain, Elise R. Lyver, Emmanuel Lesuisse, Debkumar Pain and Andrew Dancis
University of Pennsylvania, Philadelphia, U.S.A
Keywords: Mitochondria, iron, heme, Fe-S clusters, Mrs3, Mrs4, Yfh1, frataxin homolog, Rim2, mitochondrial carrier protein, pyrimidine exchange, promoting mitochondrial iron utilization.
Heeyong Yoon, Yan Zhang, Jayashree Pain, Elise R. Lyver, Emmanuel Lesuisse, Debkumar Pain and Andrew Dancis
University of Pennsylvania, Philadelphia, U.S.A
Keywords: Mitochondria, iron, heme, Fe-S clusters, Mrs3, Mrs4, Yfh1, frataxin homolog, Rim2, mitochondrial carrier protein, pyrimidine exchange, promoting mitochondrial iron utilization.
Cardiac Dysfunction Causes Majority of Deaths in Friedreich's Ataxia
Original paper: Mortality in friedreich ataxia.
By: SHARON WORCESTER, Internal Medicine News Digital Network
Cardiac dysfunction remains the most common cause of death in patients with Friedreich’s ataxia, according to the findings of a retrospective study. read more
By: SHARON WORCESTER, Internal Medicine News Digital Network
Cardiac dysfunction remains the most common cause of death in patients with Friedreich’s ataxia, according to the findings of a retrospective study. read more
Wednesday, July 20, 2011
The Role of CyaY in Iron Sulfur Cluster Assembly on the E. coli IscU Scaffold Protein
PLoS ONE 6(7): e21992. doi:10.1371/journal.pone.0021992
OPEN ACCESS
Clara Iannuzzi1#, Salvatore Adinolfi1#, Barry D. Howes2#, Ricardo Garcia-Serres3#, Martin Clémancey4, Jean-Marc Latour5, Giulietta Smulevich2, Annalisa Pastore1
1 Medical Research Council National Institute for Medical Research, London, United Kingdom, 2 Dipartimento di Chimica “Ugo Schiff”, Università di Firenze, Sesto Fiorentino, Firenze, Italy, 3 Commissariat pour l'Energie Atomique, iRTSV/LCBM, Grenoble, France, 4 CNRS, UMR 5249, Grenoble, France, 5 Université Joseph Fourier, Grenoble, France
Full text PDF
OPEN ACCESS
Clara Iannuzzi1#, Salvatore Adinolfi1#, Barry D. Howes2#, Ricardo Garcia-Serres3#, Martin Clémancey4, Jean-Marc Latour5, Giulietta Smulevich2, Annalisa Pastore1
1 Medical Research Council National Institute for Medical Research, London, United Kingdom, 2 Dipartimento di Chimica “Ugo Schiff”, Università di Firenze, Sesto Fiorentino, Firenze, Italy, 3 Commissariat pour l'Energie Atomique, iRTSV/LCBM, Grenoble, France, 4 CNRS, UMR 5249, Grenoble, France, 5 Université Joseph Fourier, Grenoble, France
Full text PDF
Tuesday, July 19, 2011
Rapamycin reduces oxidative stress in frataxin deficient yeast cells
Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2011.07.001
Carlo M.T. Marobbioa, 1, Isabella Pisanoa, 1, Vito Porcellia, Francesco M. Lasorsab and Luigi Palmieria, b.
a Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari, Via E. Orabona 4, 70125 Bari, Italy
b CNR Institute of Biomembranes and Bioenergetics, Via Orabona 4, 70125 Bari, Italy
Keywords: Friedreich ataxia (FRDA), frataxin, mitochondria, antioxidant protection, mitochondrial damage, antioxidant idebenone, yeast frataxin knock-out model, iron accumulation, iron-sulphur cluster defects, high sensitivity to oxidative stress, reactive oxygen species (ROS), rapamycin, TOR kinases inhibitor, autophagy, mitophagy.
Carlo M.T. Marobbioa, 1, Isabella Pisanoa, 1, Vito Porcellia, Francesco M. Lasorsab and Luigi Palmieria, b.
a Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari, Via E. Orabona 4, 70125 Bari, Italy
b CNR Institute of Biomembranes and Bioenergetics, Via Orabona 4, 70125 Bari, Italy
Keywords: Friedreich ataxia (FRDA), frataxin, mitochondria, antioxidant protection, mitochondrial damage, antioxidant idebenone, yeast frataxin knock-out model, iron accumulation, iron-sulphur cluster defects, high sensitivity to oxidative stress, reactive oxygen species (ROS), rapamycin, TOR kinases inhibitor, autophagy, mitophagy.
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