BMC Structural Biology 2010, 10:37doi:10.1186/1472-6807-10-37
Isaac Amela , Pedro Delicado , Antonio Gomez , Silvia Bonas , Enrique Querol and Juan Cedano
Institut de Biotecnologia i de Biomedicina Parc de Recerca UAB and Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona. 08193-Bellaterra, Barcelona, Spain
Departament d’Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. 08034-Barcelona, Spain.
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Most of the studies prompt the suggestion that the iron and sulfur atoms required for the ISC biogenesis on Isu1/Isu2 are donated by other proteins, named Frataxin and Nfs1 [20]. This ISC biogenesis machinery is not yet well understood and problems in it cause several human diseases linked to protein/enzyme deficits.
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Sunday, November 14, 2010
Saturday, November 13, 2010
Iron-Sulfur Clusters: Biogenesis, Molecular Mechanisms and Their Functional Significance
Iron-Sulfur Clusters: Biogenesis, Molecular Mechanisms and Their Functional Significance
Xiang Ming Xu, Simon Geir Møller. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2010.3259.
Keywords:Iron-sulfur clusters [Fe-S], inorganic cofactors, regulation of enzyme activity, mitochondrial respiration, ribosome biogenesis, cofactor biogenesis, gene expression regulation, nucleotide metabolism, mitochondria, human diseases.
Friday, November 12, 2010
Spectral measures of the effects of Friedreich's ataxia on speech.
Int J Speech Lang Pathol. 2010 Nov 9. [Epub ahead of print]
Rosen KM, Folker JE, Murdoch BE, Vogel AP, Cahill LM, Delatycki MB, Corben LA.
The University of Queensland, Brisbane, Australia.
Keywords:Friedreich's ataxia (FRDA), speech motor control, dysarthria, ,speaking task, spectral variation.
Rosen KM, Folker JE, Murdoch BE, Vogel AP, Cahill LM, Delatycki MB, Corben LA.
The University of Queensland, Brisbane, Australia.
Keywords:Friedreich's ataxia (FRDA), speech motor control, dysarthria, ,speaking task, spectral variation.
Wednesday, November 10, 2010
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit†
Saccà, F., Piro, R., De Michele, G., Acquaviva, F., Antenora, A., Carlomagno, G., Cocozza, S., Denaro, A., Guacci, A., Marsili, A., Perrotta, G., Puorro, G., Cittadini, A. and Filla, A. , Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Movement Disorders, n/a. doi: 10.1002/mds.23435
Tags: efficacy, safety, and tolerability, two single doses of Epoetin alfa, Friedreich's ataxia, subcutaneously, frataxin, did not affect hematocrit, cardiac function, and neurological scale, phlebotomy, lack of erythropoietic effect.
Tags: efficacy, safety, and tolerability, two single doses of Epoetin alfa, Friedreich's ataxia, subcutaneously, frataxin, did not affect hematocrit, cardiac function, and neurological scale, phlebotomy, lack of erythropoietic effect.
The benefits and limitations of animal models for translational research in neurodegenerative diseases
Nature Medicine 16, 1210 - 1214 (2010), doi:10.1038/nm.2224
Mathias Jucker is at the Department of Cellular Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, and the DZNE-German Center for Neurodegenerative Diseases, Tübingen, Germany.
Mathias Jucker is at the Department of Cellular Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, and the DZNE-German Center for Neurodegenerative Diseases, Tübingen, Germany.
Tuesday, November 9, 2010
The Herrenhausen Symposium on Neurodegeneration
Nature Medicine 16, 1200 (2010), Published online: 4 November 2010 | doi:10.1038/nm1110-1200
Although the pathological hallmarks of neurodegenerative diseases have been described for over 100 years, our understanding of the molecular events leading to neuronal death has emerged over the past two decades. Despite all of this progress in basic research, why do we still lack disease-modifying therapeutics?
Although the pathological hallmarks of neurodegenerative diseases have been described for over 100 years, our understanding of the molecular events leading to neuronal death has emerged over the past two decades. Despite all of this progress in basic research, why do we still lack disease-modifying therapeutics?
Monday, November 8, 2010
Use of botulinum toxin in the neurology clinic
Nature Reviews Neurology 6, 624-636 (November 2010) | doi:10.1038/nrneurol.2010.149
Erle C. H. Lim & Raymond C. S. Seet
Keywords: Botulinum neurotoxin (BoNT), Electromyography, endoscopy, imaging techniques, ultrasonography, fluoroscopy, mechanisms of action, neurological conditions, dystonia, spasticity, headaches,painful disorders, hemifacial spasm, essential tremor, motor tics, hyperhidrosis, sialorrhea, dosing, and methods of administration.
Erle C. H. Lim & Raymond C. S. Seet
Keywords: Botulinum neurotoxin (BoNT), Electromyography, endoscopy, imaging techniques, ultrasonography, fluoroscopy, mechanisms of action, neurological conditions, dystonia, spasticity, headaches,painful disorders, hemifacial spasm, essential tremor, motor tics, hyperhidrosis, sialorrhea, dosing, and methods of administration.
Saturday, November 6, 2010
Differentiating Impairment Levels in Temporal Versus Spatial Aspects of Linguopalatal Contacts in Friedreich's Ataxia.
Motor Control. 2010 Oct;14(4):490-508.
Folker JE, Murdoch BE, Cahill LM, Rosen KM, Delatycki MB, Corben LA, Vogel AP.
School of Health and Rehabilitation Sciences, The University of Queensland, St Lucia, Qld,
Australia.
Keywords; Electropalatography (EPG), pattern of linguopalatal contact, consonant phase durations, dysarthria, Friedreich's ataxia (FRDA), articulatory impairment in FRDA.
Folker JE, Murdoch BE, Cahill LM, Rosen KM, Delatycki MB, Corben LA, Vogel AP.
School of Health and Rehabilitation Sciences, The University of Queensland, St Lucia, Qld,
Australia.
Keywords; Electropalatography (EPG), pattern of linguopalatal contact, consonant phase durations, dysarthria, Friedreich's ataxia (FRDA), articulatory impairment in FRDA.
Friday, November 5, 2010
Getting to the Core of Repeat Expansions by Cell Reprogramming
Cell Stem Cell, Volume 7, Issue 5, 545-546, 5 November 2010, doi:10.1016/j.stem.2010.10.005.
Sergei M. Mirkin
Keywords: iPSCS, Friedreich's ataxia, (GAA)n repeat, repeat instability, epigenetic signature.
FULL TEXT PDF
Sergei M. Mirkin
Keywords: iPSCS, Friedreich's ataxia, (GAA)n repeat, repeat instability, epigenetic signature.
FULL TEXT PDF
Thursday, November 4, 2010
Scripps Research team implicates wayward DNA-repair enzyme in Friedreich's ataxia
Easy to understand explanation of this recently published paper
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.
Various sources:
http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html
http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.
Various sources:
http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html
http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia
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