نتایج جستجو برای: friedreich ataxia
تعداد نتایج: 17893 فیلتر نتایج به سال:
A pride of lions are prowling among the vertices and edges of an n×n grid. If their paths are known in advance, is it possible to design a safe path for a man that avoids all lions, assuming that man and lion move at the same speed? In their recent paper [4], Dumitrescu et al. employed probabilistic arguments to show that O( √ n) lions can always be avoided. They raised the question if it is al...
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder caused by GAA repeat expansion within the FXN gene, leading to epigenetic changes and heterochromatin-mediated gene silencing that result in a frataxin protein deficit. Histone deacetylase (HDAC) inhibitors, including pimelic o-aminobenzamide compounds 106, 109 and 136, have previously been shown to reverse FXN gene silencing i...
Friedreich ataxia (FA) is a rare disease caused by deficiency of frataxin, a mitochondrial protein. As there is no cure available for this disease, many strategies have been developed to reduce the deleterious effects of such deficiency. One of these approaches is based on delivering frataxin to the tissues by coupling the protein to trans-activator of transcription (TAT) peptides, which enable...
FRIEDREICH 'S ATAXIA is one of the rare heritable spinocerebellar degenerations. The spinocerebellar tracts, dorsal columns, pyramidal tracts, and, to a lesser extent, the cerebellum and medulla are involved. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent deep tendon reflexes, Ba...
Friedreich ataxia is a neurodegenerative disease caused by a GAA triplet repeat expansion in the first intron of the frataxin gene, which results in reduced expression levels of the corresponding protein. Despite numerous animal and cellular models, therapeutic options that mechanistically address impaired frataxin expression are lacking. Here, we have developed a new mammalian cell model emplo...
Friedreich Ataxia (FRDA), the most prevalent of the inherited ataxias, is a multi-systemic disease with loss of sensory neurons and life-threatening hypertrophic cardiomyopathy as its most severe manifestations. Reduced levels of the mitochondrial protein frataxin lead to cell-damaging oxidative stress and consequently FRDA is considered as a model for more common neurodegenerative disorders in...
BACKGROUND Friedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously demonstrated that frataxin interacts with complex II subunits of the electronic transport chain (ETC) and putative electronic transfer flavoproteins, suggesting that frataxin could participate in the oxidative phosphorylation. METHODS AND FINDINGS Here we have inv...
Karl Schilling,1 John Oberdick,2 and René L. Schilling3 1Anatomisches Institut, Anatomie und Zellbiologie, Rheinische Friedrich-Wilhelms-Universität, D-53115 Bonn, Germany, 2Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio 43210, and 3Department of Mathematics, Institut für Mathematische Stochastik, Technische Universität Dresden, D-01062 Dresden, Germany
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequen...
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