Global ETD Search
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Showing 1 to 9 of 9 for “"FRDA"”.
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A Protective Role Of Autophagy In A Drosophila Model Of Friedreich's Ataxia (frda)
<p>Friedreich’s ataxia (FRDA) is an inherited autosomal recessive neurodegenerative disease. It affects 1 in every 50,000 people in central Europe and North America. FRDA is caused by deficiency of Frataxin, an essential mitochondrial iron chaperone protein, and the associated oxidative stress …
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Definition of The Landscape of Chromatin Structure At The Frataxin Gene In Friedreich’S Ataxia
<p>Friedreich’s ataxia (FRDA) is caused by the transcriptional silencing of the frataxin (<em>FXN</em>) gene. FRDA patients have expansion of GAA repeats in intron 1 of the <em>FXN</em> gene in both alleles. A number of studies demonstrated that specific histone deacetylase inhibitors (HDACi) …
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Therapeutic testing and epigenetic characterization of Friedreich Ataxia
Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disorder with severely debilitating effects and no current cure. FRDA is mainly caused by the hyper-expansion of a GAA repeat present in intron 1 of the FXN gene, which results in decreased gene expression and consequently a …
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Unraveling dual dysfunction in Friedreich’s ataxia: how mitochondrial dysfunction and microglial activation drive neurodegeneration
Friedreich’s ataxia (FRDA) is hereditary recessive disorder that impacts muscular function at several levels. Currently 1 in 40,000 people are impacted by FRDA globally. FRDA is defined by multiple symptoms including progressive ataxia, dysarthria, sensory loss, cardiomyopathy, diabetes mellitus, …
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EXPLORING MITOCHONDRIAL AND REDOX VULNERABILITY IN FRIEDREICH'S ATAXIA USING GOLD NANOCLUSTERS IN HUMAN CELLULAR MODELS
Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder caused by transcriptional silencing of the FXN gene, leading to frataxin deficiency, impaired iron–sulfur cluster biogenesis, mitochondrial dysfunction, and chronic oxidative stress. Despite significant advances in …
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Mitochondrial protein acetylation and left ventricular function in a model of hypertrophic cardiomyopathy and heart failure
… childhood heart disease of Friedreich’s Ataxia (FRDA) is characterized by hypertrophy and failure. It is caused by loss of frataxin (FXN), a mitochondrial protein involved in energy homeostasis. FRDA model hearts have increased mitochondrial protein acetylation and impaired sirtuin 3 (SIRT3) …
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Investigating the pathogenesis and therapy of Friedreich Ataxia
Friedreich ataxia (FRDA) is an inherited autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide repeat expansion mutation within the first intron of the FXN gene. Normal individuals have 5 to 30 GAA repeats, whereas affected individuals have from approximately 70 to more than …
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Molecular Details Of The Mitochondrial Iron Sulfur Cluster Assembly Pathway
… in several diseases such as Friedreich's Ataxia (FRDA), Sideroblastic Anemia and ISCU Myopathy. Therefore molecular details of the biogenesis pathway will provide deep insight in the pathway and treatment options for these diseases. FRDA is caused by deficiency of a single protein called as …
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Identification of virulence determinants of Mycobacterium tuberculosis via genetic comparisons of a virulent and an attenuated strain of Mycobacterium tuberculosis.
… that the attenuated strain displayed a lag in frdA and frdB expression at the onset of culture when compared to microaerophilic cultures of H37Rv and aerated cultures of H37Ra. Furthermore, inhibition of the fumarate reductase complex in intracellular bacteria resulted in a significant …