Results 161 to 170 of about 6,668 (188)

Evaluation of an FRDA–EGFP genomic reporter assay in transgenic mice

Mammalian Genome, 2005
Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide expansion in the first intron of the Friedreich ataxia gene (FRDA) that causes reduced synthesis of frataxin, a mitochondrial protein likely to be involved in biosynthesis of iron-sulfur clusters.
Joseph P, Sarsero, Timothy P, Holloway, Lingli, Li, Samuel, McLenachan, Kerry J, Fowler, Ivan, Bertoncello, Lucille, Voullaire, Sophie, Gazeas, Panos A, Ioannou   +8 more
openaire   +2 more sources

Physical evidence for the position of the Friedreich’s ataxia locus FRDA proximal to D9S5

Cytogenetics and Cell Genetics, 2008
Orientation of the Friedreich’s ataxia locus (FRDA) with respect to D9S15 and D9S5 has proved critical to the design of subsequent cloning strategies. The rarity of recombination events between FRDA and these markers, originally used to determine assignment to human chromosome region 9q13→q21.1 has necessitated the instigation of physical mapping ...
R, Hillermann, C G, See, M, Pook, D, Wilkes, J, Carvajal, K, Doudney, R, Williamson, S, Chamberlain   +7 more
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Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia

The Journal of Gene Medicine, 2002
AbstractBackgroundFriedreich ataxia is a slowly progressive neurodegenerative disease caused by reduced expression of frataxin as a result of a GAA repeat expansion in the first intron of the FRDA gene. We report here the development of a sensitive cellular assay for frataxin expression from the intact FRDA locus that should facilitate the ...
Joseph P, Sarsero, Lingli, Li, Hady, Wardan, Karin, Sitte, Robert, Williamson, Panos A, Ioannou   +5 more
openaire   +2 more sources

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study

Journal of Neurology, 2016
Friedreich ataxia (FRDA) is traditionally associated with neuropathology in the cerebellar dentate nucleus and spinal cord. Growing evidence also suggests involvement of the cerebral and cerebellar cortices, although reports of structural abnormalities remain mixed. This study assessed the structural integrity of cortical grey matter in FRDA, focussing
Louisa P, Selvadurai, Ian H, Harding, Louise A, Corben, Monique R, Stagnitti, Elsdon, Storey, Gary F, Egan, Martin B, Delatycki, Nellie, Georgiou-Karistianis   +7 more
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Characterization of E. coli MG1655 and frdA and sdhC mutants at various aerobiosis levels

Journal of Biotechnology, 2011
Depending on the availability of oxygen, Escherichia coli is able to switch between aerobic respiratory metabolism and anaerobic mixed acid fermentation. An important, yet understudied, metabolic mode is the micro-aerobic metabolism at intermediate oxygen availabilities. The relationship between oxygen input, physiology and gene expression of E.
Steinsiek, S., Frixel, S., Stagge, S., Bettenbrock, K.   +3 more
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Isogenic perturb-seq to identify modulators of FRDA transcriptional phenotypes

2023
Most individuals with Friedreich’s ataxia (FRDA) have both neurologic and cardiac disease which impacts their quality of life. While neurologic symptoms generally are noted earlier in life, cardiac disease is unfortunately the most common cause of death.
openaire   +1 more source

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients

Gait & Posture, 2014
Introduction: In the last few years, robotic devices are extensively employed to exploit how the Central Nervous System (CNS) learns to control movements in different dynamical conditions. It was demonstrate that normally developed subjects can adapt to novel dynamic environments, tuning an internal model of the armenvironment to compensate ...
M. Germanotta, M. Petrarca, S. Rossi, S. Carniel, E. Castelli, P. Cappa   +5 more
openaire   +1 more source

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats

Frontiers in Neuroscience, 2023
Adamo Valle, Sahar Al-Mahdawi, Mark A Pook   +2 more
exaly  

FRDA

2009
Robert J. Desnick, Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue, John-John B. Schnog, Victor E. A. Gerdes, Pedro R. Cutillas, Robert J. Unwin, Heike Schulze, Konrad Sandhoff, Jean-François Pellissier, Georges Serratrice, Dominique Figarella-Branger, Cord Sunderkötter, Marcelo Gustavo Binker, Laura Iris Cosen-Binker, Matthias Wettstein, Peter von den Driesch, Rima Nabbout, Massimo Mantegazza, Olivier Dulac, Johann Michael Schröder, Ho Sung Kang, Johann Michael Schröder, Marina Marchetti Hugo Ten Cate, Marina Marchetti, Hugo ten Cate, Lev I. Patrushev, Lee S. Weinstein, Adiba Isa, Fernando Azpiroz, Guang-Sheng Li, Ling Jing, Hui Xu, Anne M. Molloy, John M. Scott, Cord Sunderkötter, Axel Lorentz, Stephan C. Bischoff, Filippo Tamanini, Filippo Tamanini, Thomas Klockgether, Derek A. Wong, Jürgen Kopitz, Carolina von Reitzenstein, Michael Cantz   +48 more
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Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Neuro endocrinology letters, 2005
DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new phenotype figures of diseases already well known. Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or availability of new ...
Alena, Zumrová, Radim, Mazanec, Martin, Vyhnálek, Anna, Krepelová, Zuzana, Musová, Stefanie, Krilová, Ludmila, Appltová, Markéta, Havlovicová   +7 more
openaire   +1 more source