Sunday, June 5, 2011

Characterization of poly (rc) binding protein (pcbp2) and frataxin

Wayne State University Theses. Paper 71.

Ghimire-Rijal, Sudipa, (2011). Wayne State University Theses. Paper 71.

Keywords: Iron, cofactor, cellular iron homeostasis, Poly (rC) Binding Protein family, iron chaperone, PCBP2, dimeric protein.

The cerebellar component of Friedreich's ataxia.

Acta Neuropathol. 2011 Jun 3. [Epub ahead of print]

Koeppen AH, Davis AN, Morral JA.
Research Service (151), Veterans Affairs Medical Center, USA

Keywords: frataxin, Friedreich's ataxia (FRDA),progressive atrophy, dentate nucleus (DN), intact Purkinje cell somata, dendrites, severe loss of large NSE-reactive neurons, Small neurons remained intact, basket fibers, Golgi neurons, Golgi axonal plexuses, γ-aminobutyric acid (GABA), GABA-ergic terminals.

Friday, June 3, 2011

Utilisation of Advance Motor Information is Impaired in Friedreich Ataxia.

Cerebellum. 2011 Jun 2. [Epub ahead of print]

Corben LA, Delatycki MB, Bradshaw JL, Churchyard AJ, Georgiou-Karistianis N.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Australia.

Keywords: Friedreich ataxia (FRDA), motor planning ability, age of disease onset, motor cognition, cerebellar impairment, cerebro-ponto-cerebello-thalamo-cerebral loops, direct primary cortical pathology.

Wednesday, June 1, 2011

Milestones in ataxia.

Mov Disord. 2011 May;26(6):1134-41. doi: 10.1002/mds.23559.

Klockgether T, Paulson H.

Department of Neurology, University Hospital Bonn, Bonn, Germany; German Center for Neurodegenerative Disorder (DZNE), Bonn, Germany

Keywords: genetic and molecular basis of ataxias, pathogenesis, spinocerebellar ataxias, ataxia telangiectasia, Friedreich ataxia, protein aggregation, failure of protein homeostasis, perturbations in ion channel function, defects in DNA repair, mitochondrial dysfunction.

Sunday, May 29, 2011

Development of benzoquinoquinoxaline derivatives as triplex-specific probes: Recognition of DNA structures at repeats sequences

Bergquist, Helen (Stockholm University, Faculty of Science, Department of Molecular Biology and Functional Genomics)

Doctoral thesis, 2011-05-10
ISBN: 978-91-7447-296-7

Keywords: Triplex, H-DNA, BQQ, BQQ-OP, BQQ-Bodipy, triplet repeat, DNA, non-B-DNA, pkd1, frataxin, Friedreich's ataxia

Saturday, May 28, 2011

Automatic identification of gait events using an instrumented sock

In addition of the potential of using textile-based transducers in future devices, I also think in a possible help to assess gait objectively (to help improve the measurement of the ICARS scale)

Journal of NeuroEngineering and Rehabilitation 2011, 8:32 doi:10.1186/1743-0003-8-32
Published: 27 May 2011, OPEN ACCESS

Stephen J Preece, Laurence P J Kenney, Matthew J Major, Tilak Dias, Edward Lay and Bosco T Fernandes

Background
Textile-based transducers are an emerging technology in which piezo-resistive properties of materials are used to measure an applied strain. By incorporating these sensors into a sock, this technology offers the potential to detect critical events during the stance phase of the gait cycle. This could prove useful in several applications, such as functional electrical stimulation (FES) systems to assist gait.
Methods
We investigated the output of a knitted resistive strain sensor during walking and sought to determine the degree of similarity between the sensor output and the ankle angle in the sagittal plane. In addition, we investigated whether it would be possible to predict three key gait events, heel strike, heel lift and toe off, with a relatively straight-forward algorithm. This worked by predicting gait events to occur at fixed time offsets from specific peaks in the sensor signal.
Results
Our results showed that, for all subjects, the sensor output exhibited the same general characteristics as the ankle joint angle. However, there were large between-subjects differences in the degree of similarity between the two curves. Despite this variability, it was possible to accurately predict gait events using a simple algorithm. This algorithm displayed high levels of trial-to-trial repeatability.
Conclusions
This study demonstrates the potential of using textile-based transducers in future devices that provide active gait assistance.

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Friday, May 27, 2011

Translating Stem Cell Research Into Therapies

Medical News Today, Article Date: 26 May 2011

The perspective on translating neural stem cell research into clinical therapeutics is part of a special issue of Neuron devoted to neural stem cells and neurogenesis

Original scientific paper: Translating Stem Cell Studies to the Clinic for CNS Repair: Current State of the Art and the Need for a Rosetta Stone
Karen Aboody, Alexandra Capela, Nilofar Niazi, Jeffrey H. Stern, and Sally Temple

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Monday, May 23, 2011

DNA Dynamics Is Likely to Be a Factor in the Genomic Nucleotide Repeats Expansions Related to Diseases

PLoS ONE 6(5): e19800. doi:10.1371/journal.pone.0019800
Alexandrov BS, Valtchinov VI, Alexandrov LB, Gelev V, Dagon Y, et al. 2011

OPEN ACCESS

Abstract
Trinucleotide repeats sequences (TRS) represent a common type of genomic DNA motif whose expansion is associated with a large number of human diseases. The driving molecular mechanisms of the TRS ongoing dynamic expansion across generations and within tissues and its influence on genomic DNA functions are not well understood. Here we report results for a novel and notable collective breathing behavior of genomic DNA of tandem TRS, leading to propensity for large local DNA transient openings at physiological temperature. Our Langevin molecular dynamics (LMD) and Markov Chain Monte Carlo (MCMC) simulations demonstrate that the patterns of openings of various TRSs depend specifically on their length. The collective propensity for DNA strand separation of repeated sequences serves as a precursor for outsized intermediate bubble states independently of the G/C-content. We report that repeats have the potential to interfere with the binding of transcription factors to their consensus sequence by altered DNA breathing dynamics in proximity of the binding sites. These observations might influence ongoing attempts to use LMD and MCMC simulations for TRS–related modeling of genomic DNA functionality in elucidating the common denominators of the dynamic TRS expansion mutation with potential therapeutic applications.

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Saturday, May 21, 2011

Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.

Cerebellum. 2011 May 20. [Epub ahead of print]

Nachbauer W, Hering S, Seifert M, Steinkellner H, Sturm B, Scheiber-Mojdehkar B, Reindl M, Strasak A, Poewe W, Weiss G, Boesch S.
Source
Department of Neurology, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

Keywords: Friedreich ataxia (FRDA), frataxin, recombinant human erythropoietin (rhuEPO), dose-response interactions, single doses (5,000, 10,000 and 30,000 IU), serum erythropoietin levels, iron metabolism, mitochondrial function, ataxia rating did not reveal clinical improvement, ferritin decrease.

Friday, May 20, 2011

Stem cell technology for neurodegenerative diseases

Annals of Neurology, (2011) DOI: 10.1002/ana.22487

J. Simon Lunn PhD, Stacey A. Sakowski PhD, Junguk Hur PhD, Eva L. Feldman MD PhD,
Department of Neurology – University of Michigan, Ann Arbor, MI

Keywords: stem cell technologies, neurodegenerative diseases, stem cell therapies.