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Dissertations / Theses on the topic 'Friedreich's ataxia'

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Published: 4 June 2021

Last updated: 26 July 2025

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1

Blaney, Bronagh Elizabeth. "Dysarthria and Friedreich's ataxia." Thesis, University of Ulster, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.403631.

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2

Sherzai, Mursal. "Investigating novel therapies for Friedreich's ataxia." Thesis, Brunel University, 2018. http://bura.brunel.ac.uk/handle/2438/16971.

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Friedreich's ataxia (FRDA) is a progressive neurodegenerative disorder caused by a homozygous GAA repeat expansion mutation in intron 1 of the frataxin gene (FXN), which instigates transcriptional issues. As a consequence, reduced levels of frataxin protein lead to mitochondrial iron accumulation, oxidative stress and ultimately cell death; particularly in dorsal root ganglia (DRG) sensory neurons and the dentate nucleus of the cerebellum. In addition to neurological disability, FRDA is associated with cardiomyopathy, diabetes mellitus and skeletal deformities. Currently there is no effective

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3

Becker, Erika Michelle. "The role of frataxin in mitochondrial iron and haem metabolism and the development of iron chelators as potential therapeutic agents for the treatment of Friedreich's ataxia /." St. Lucia, Qld, 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16904.pdf.

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4

Wilkes, David Charles. "Molecular analysis of the Friedreich's ataxia locus." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.309737.

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5

Rothe, Nadine. "Gene regulation and epigenotype in Friedreich's ataxia." Thesis, Imperial College London, 2008. http://hdl.handle.net/10044/1/1305.

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Friedreich’s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA. Here, via chromatin immunoprecipitation (ChIP), the presence of a RNA pol II transcriptional pausing site at exon 1 of the FXN gene was demonstrated. At this site, FRDA EBVcell lines exhibited elevated levels of the negative elongation factor NELF-E depending on the presence of a GAA repeat expansion compared to controls. This site may represent a rate-limiting step for FXN

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6

Silva, Cynthia Bonilha da 1981. "Estudo longitudinal clínico e de imagem na ataxia de Friedreich = Longitudinal clinical and neuroimaging study in Friedreich's ataxia." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312860.

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Orientador: Marcondes Cavalcante França Júnior<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-26T03:00:02Z (GMT). No. of bitstreams: 1 Silva_CynthiaBonilhada_D.pdf: 5479490 bytes, checksum: 024402553720f1d64b73e9db5fae2ab4 (MD5) Previous issue date: 2014<br>Resumo: Ataxia de Friedreich é a ataxia autossômiva recessiva mais frequente, causada por uma expansão de tripletos GAA em homozigoze no primeiro íntron do gene FXN, localizado no cromossomo 9. Trata-se de uma doença neurodegenerativa de início precoce, com cur

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7

Hayes, Sean I. A. "Genetic and molecular investigation of the spinocerebellar ataxias." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=30665.

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The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. To date, ten SCA loci have been described (SCA1-SCA8, SCA10 and SCA11), with six genes having been cloned (SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and SCA8) and shown to contain CAG/CTG repeats.<br>This study investigated various aspects of the SCA2, SCA6, and SCA7 subtypes. Haplotype analysis in our panel of SCA2 families identified multiple ancestral mutation events to be responsible for disease in this group. Screening for the newly identified SCA6 and SCA7 mutations in our large

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8

Yandim, Cihangir. "Heterochromatin effects in Friedreich's ataxia and sexual dimorphism." Thesis, Imperial College London, 2012. http://hdl.handle.net/10044/1/9644.

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Heterochromatin is implicated in the negative regulation of gene expression. To understand the effects of heterochromatin on RNA polymerase-II (RNAPII) mediated transcription, this study focused on the FXN gene where abnormal silencing induced by expanded (GAA)n repeats causes Friedreich's ataxia (FRDA), an incurable neurological disorder. Here, the silenced FXN locus was found to be modified by the heterochromatic histone marks H3K9me3, H3K27me3 and bound by HP1β. This pathological heterochromatinisation was partially reversed by the histone deacetlyase inhibitor nicotinamide, which upregulat

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9

Marmolino, Daniele. "Alterations of mitochondrial biogenesis and alterations of mitochondrial antioxidant defense in Friedreich's ataxia." Doctoral thesis, Universite Libre de Bruxelles, 2011. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/209972.

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Friedreich’s ataxia (FRDA) is an autosomal recessive inherited disorder affecting approximately 1 every 40,000 individuals in Western Europe, is characterized by progressive gait and limb ataxia, dysarthria, areflexia, loss of vibratory and position sense, and a progressive weakness of central origin. Additional features particularly include an hypertrophic cardiomyopathy that can cause premature death. A large GAA repeat expansion in the first intron of the FXN gene is the most common mutation underlying FRDA. Patients show severely reduced levels of the FXN-encoded mitochondrial protein frat

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10

Ahern, Alan James. "Generating a conditional knockout mouse model for Friedreich's ataxia." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.394939.

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11

Stephenson, Jeannie B. "Longitudinal Quantitative Analysis of Gait and Balance in Friedreich's Ataxia." Scholar Commons, 2014. https://scholarcommons.usf.edu/etd/5623.

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Friedreich's Ataxia (FA) is an autosomal-recessive, neurodegenerative disease characterized by progressive lower extremity muscle weakness and sensory loss, balance deficits, limb and gait ataxia, and dysarthria. FA is considered a sensory ataxia because the dorsal root ganglia and spinal cord dorsal columns are involved early in the disease, whereas the cerebellum is affected later. Balance deficits and gait ataxia are often evaluated clinically and in research using clinical rating scales. Recently, quantitative tools such as the Biodex Balance System SD and the GAITRite Walkway System have

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12

Wagner, Gregory Randall. "Identification and characterization of altered mitochondrial protein acetylation in Friedreich's ataxia cardiomyopathy." Thesis, Hindawi Publishing Corporation and Oxford Journals and SAGE Journals, 2011. http://hdl.handle.net/1805/4209.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Friedreich’s Ataxia (FRDA) is a rare and poorly understood autosomal recessive disease caused by a pathological deficiency of the mitochondrial protein frataxin. Patients suffer neurodegeneration, ataxia, diabetes, and heart failure. In an effort to understand the mechanisms of heart failure in FRDA, we investigated the role of the protein modification acetylation, which is highly abundant on mitochondrial proteins and has been implicated in regulating intermediary metabolism. Using mouse models of FRDA, we found that cardiac frataxi

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13

Christodoulou, Kyproula. "Molecular genetics of autosomal recessive spinocerebellar ataxias." Thesis, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.244268.

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14

Doudney, Kit William Edwin. "Cosmid contig construction and characterisation of coding sequences in the Friedreich's ataxia region." Thesis, Imperial College London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.314293.

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15

Chiang, Shannon. "The Involvement of Anti-Oxidative Response and Mitochondrial Dynamics in the Pathogenesis of Friedreich’s Ataxia: Relevance to the Development of Future Therapeutics." Thesis, The University of Sydney, 2019. https://hdl.handle.net/2123/21789.

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Friedreich’s ataxia (FA) is the most common autosomal recessive ataxia, and patients of the disease are severely afflicted with progressive neuro- and cardio-degeneration. The main cause of FA is due to the deficient expression of the mitochondrial protein, frataxin, and its deficiency has been well reported to be associated with oxidative stress and losses in energy metabolism. The major aim of this thesis was to elucidate the molecular mechanisms involved in the dysregulated anti-oxidative response in frataxin deficiency, which is responsible for the exacerbation of oxidative stress in FA. I

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16

Rai, Myriam. "Overcoming frataxin gene silencing in Friedreich's ataxia with small molecules: studies on cellular and animal models." Doctoral thesis, Universite Libre de Bruxelles, 2010. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210180.

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Friedreich’s ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability and heart disease. It is caused by a pathological intronic hyperexpansion of a GAA repeat in the FXN gene, encoding the essential mitochondrial protein frataxin. At the homozygous state, the GAA expansion induces a heterochromatin state with decreased histone acetylation and increased methylation, resulting in a partial deficiency of frataxin expression. This was established in cells from FRDA patients. We showed that the same chromatin changes exist in a GAA based mouse model, KI

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17

Want, Kristian. "Fe-S cluster biosynthesis cross-regulation by ferredoxin-2 and frataxin, implications for Friedreich's ataxia." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL122.

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L'ataxie de Friedreich (AF) est une maladie génétique, neurodégénérative et cardiaque, causée par un défaut d’expression de la frataxine, une protéine mitochondriale qui contrôle la formation de clusters fer-soufre (Fe-S), des métallo-cofacteurs de protéines jouant des rôles cruciaux dans le transfert d’électrons, la catalyse redox et non-redox, la signalisation et le don de soufre. La brique élémentaire de construction de tous les clusters Fe-S est le cluster [2Fe-2S], dont la synthèse est orchestrée par la machinerie mitochondriale des clusters fer-soufre (ISC). Cette machinerie est constitu

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18

Dedobbeleer, Chantal. "Echocardiographie de déformation et fonction ventriculaire gauche." Doctoral thesis, Universite Libre de Bruxelles, 2014. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/209331.

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La dysfonction ventriculaire gauche reste sous-diagnostiquée en pratique clinique actuelle car les paramètres conventionnels d’échographie ne sont pas suffisamment sensibles pour détecter des modifications fines de la fonction cardiaque. L’introduction récente de l’échocardiographie de suivi des marqueurs acoustiques (speckle tracking echocardiography) a permis par ses capacités descriptives de la mécanique cardiaque, de revisiter la contraction cardiaque et, de ce fait, de proposer une nouvelle approche échographique de l’évaluation de la fonction ventriculaire gauche.<p><p>A travers trois ét

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19

Amelot, Vincent. "Améliorer la prise en charge des patients et de leurs parents dans les essais cliniques en maladie rare : l'exemple de l'ataxie de Friedreich." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCB020/document.

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En Europe, une maladie est définie comme rare dès lors qu'elle touche moins d'une personne sur 2000, ce qui représente moins de 30 000 personnes en France. Il existerait plus de 7000 maladies rares dans le monde dont les deux tiers ont un impact important sur la santé et la qualité de vie des patients. Des études récentes révèlent des vécus possiblement spécifiques aux personnes atteintes de maladies rares, parmi lesquels un désir d'information accru sur les avancées de la recherche et sur les mécanismes physiologiques de leurs maladies ; ou encore l'instauration de rapports collaboratifs plut

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20

Pastore, Chiara. "NMR study of CyaY and YFHJ, two proteins involved in iron metabolism." Doctoral thesis, Scuola Normale Superiore, 2006. http://hdl.handle.net/11384/85808.

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From the Summary: In this thesis we apply Nuclear Magnetic Resonance to gain insights into the structures and functions of the two proteins CyaY and YFHJ. The overall material is organised in eight chapters, an introduction and a conclusion. Chapter 1: In this chapter the basis of Nuclear Magnetic Resonance are provided, with reference to its application to the study of biological macromolecules Chapter 2: This chapter describes the 2D and 3D NMR experiments that allow the assignment of a protein’s spectra. Chapter 3: Here a short description of the bioinformatic tools and software

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21

Bolotta, Alessandra <1982&gt. "Oxidative Stress and Friedreich’s Ataxia." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6282/1/Bolotta_Alessandra_tesi.pdf.

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Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder caused by a deficiency of the protein frataxin and characterized by oxidative stress. The first aim of my research project was to analyze the effects of tocotrienol in FRDA patients. Patients received for 2 months a low dose of tocotrienol. A number of biochemical parameters related to oxidative stress were studied. We consistently showed that taking for 2 months a low dose of tocotrienol led to the decrease of oxidative stress indexes in FRDA patients. Also, this study provides a suitable model to investigate the efficacy of natural c

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22

Bolotta, Alessandra <1982&gt. "Oxidative Stress and Friedreich’s Ataxia." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6282/.

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Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder caused by a deficiency of the protein frataxin and characterized by oxidative stress. The first aim of my research project was to analyze the effects of tocotrienol in FRDA patients. Patients received for 2 months a low dose of tocotrienol. A number of biochemical parameters related to oxidative stress were studied. We consistently showed that taking for 2 months a low dose of tocotrienol led to the decrease of oxidative stress indexes in FRDA patients. Also, this study provides a suitable model to investigate the efficacy of natural c

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23

Obis, Monné Èlia. "L'atàxia de Friedreich: estudi del dèficit de frataxina en miòcits cardíacs." Doctoral thesis, Universitat de Lleida, 2014. http://hdl.handle.net/10803/300437.

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L’atàxia de Friedreich és una malaltia rara neurodegenerativa causada pel dèficit d’una proteïna mitocondrial anomenada frataxina. La miocardiopatia és freqüent en els pacients i sol ser la principal causa de mort. Actualment no existeix cap model cel•lular cardíac per estudiar la patofisiologia en aquestes cèl•lules. És per això que hem desenvolupat un model utilitzant miòcits ventriculars de rates neonatals i RNA d’interferència. Utilitzant aquest model hem observat que el dèficit de frataxina en aquestes cèl•lules causa una alteració de la xarxa mitocondrial i estrès oxidatiu. A més, els m

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24

Rocha, Martina. "Ataxia de Friedreich: perspectivas de tratamento." Master's thesis, Universidade da Beira Interior, 2011. http://hdl.handle.net/10400.6/1023.

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A ataxia de Friedreich é uma doença autossómica recessiva descrita pela primeira vez por Nikolaus Friedreich em 1863 [1]. Afecta aproximadamente um em cada 50 000 caucasianos. Manifesta-se no início da segunda década de vida, habitualmente com a ataxia da marcha. As mãos são afectadas meses ou anos após o envolvimento das pernas, seguindo-se a afecção do discurso. Outras características relevantes são: fraqueza muscular, cifoescoliose, miocardiopatia e diabetes [2]. Esta doença é causada por uma mutação no cromossoma 9, que resulta numa hiperexpansão do tripleto GAA no primeiro intrão do gene

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25

Saqlain, Saba. "Investigating Friedreich ataxia disease mechanisms and therapy." Thesis, Brunel University, 2018. http://bura.brunel.ac.uk/handle/2438/15853.

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Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease caused by the excessive pathological expansion of an unstable GAA trinucleotide repeat within intron 1 of the FXN gene. FRDA occurs due to a pathological GAA repeat ranging from 70-1200 repeats, whereas normal individuals have up to 40 repeats. The prevalence of FRDA in Caucasians is 1:50,000 and it is the most common inherited ataxia. The presence of this large GAA repeat leads to silencing of the FXN gene, resulting in severely diminished levels of the essential mitochondrial protein, frataxin. Frataxin is required

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26

Sandi, Chiranjeevi. "Investigating the pathogenesis and therapy of Friedreich ataxia." Thesis, Brunel University, 2010. http://bura.brunel.ac.uk/handle/2438/6334.

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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 1,000 GAA triplets. In addition to progressive neurological disability, FRDA is associated with cardiomyopathy and an increased risk of diabetes mellitus. Currently there is no effective therapy for FRDA and this is perhaps due to the lack of an effective system to test potential drugs. Therefore, th

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27

Mouro, Pinto Ricardo. "Therapeutic testing and epigenetic characterization of Friedreich Ataxia." Thesis, Brunel University, 2009. http://bura.brunel.ac.uk/handle/2438/6335.

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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 deficiency of the mitochondrial protein frataxin. In the first instance, frataxin deficiency renders an impaired protection from oxidative stress. Antioxidant therapy with cannabinoids (CBD and THC) and CTMIO was investigated in GAA repeat FXN YAC transgenic mouse models of FRDA, but no significant impro

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28

Fussiger, Helena. "Ataxia de Friedreich : da suspeita clínica ao diagnóstico definitivo." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2018. http://hdl.handle.net/10183/180996.

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As ataxias recessivas são um grupo heterogêneo de doenças, mais frequentemente com idade de início precoce (antes dos 30 anos), neuropatia sensitivo-motora periférica e envolvimento extraneurológico, mas também com quadro puro de ataxia e início tardio. A mais conhecida e comum delas é a ataxia de Friedreich (FRDA), motivo do presente trabalho. A FRDA é causada pela perda de função da frataxina, proteína transcrita pelo gene FXN. A mutação causal mais comum corresponde a uma expansão GAA no primeiro íntron desse gene. O quadro clínico clássico caracteriza-se por ataxia, arreflexia e sinal de B

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29

PIERMARINI, EMANUELA. "Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich’s Ataxia." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2015. http://hdl.handle.net/2108/202966.

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Per poter delineare i meccanismi patogenetici che sottendono l’assonopatia nell’Atassia di Friedreich (FA), una malattia neurodegenerativa caratterizzata da retrazione assonale, abbiamo analizzato la dinamica dei microtubuli (MTs) in un modello neuronale in vitro silenziato per il gene della fratassina (shFxn). Una caratteristica tipica dei MTs è la loro "instabilità dinamica", attraverso cui vanno incontro a fasi di crescita (polimerizzazione) e catastrofe (depolimerizzazione). I microtubuli svolgono un ruolo fondamentale nella fisiologia dei neuroni e ogni perturbazione della loro dinamicit

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CAVALLO, FRANCESCA. "Highly specific ubiquitin-competing molecules as potential therapeutic tools for Friedreich’s ataxia." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2015. http://hdl.handle.net/2108/203215.

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Friedreich’s ataxia (FRDA) is a devastating inherited neurodegenerative disease that leads to neural and cardiac degeneration associated with a progressive disability. FRDA is caused by a homozygous hyperexpansion of a GAA trinucleotide repeat in the first intron of the FTX gene, encoding the mitochondrial protein frataxin. The genetic defect results in “sticky” DNA structures and epigenetic changes that severely reduce transcription of the frataxin gene. The subsequent low levels of frataxin lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electron

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31

Muñoz, Lasso Diana Carolina. "Fisiopatología de la ataxia de Friedreich: Transporte y degeneración axonal." Doctoral thesis, Universitat Politècnica de València, 2017. http://hdl.handle.net/10251/92842.

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Friedreich ataxia (FRDA) is a recessive human disease of central and peripheral nervous system that affects children and young adults. FRDA is a peripheral neuropathy characterized by a initial degeneration of the large neurons of the dorsal root ganglia (DRG) or proprioceptive neurons. Most of the patients with FRDA have a homozygous guanine-adenine-adenine (GAA) expansion within the first intron of the gen that codifies for a small mitochondrial protein, frataxin (FXN). This mutation leads to a reduction of frataxin expression in all human cells, which produces changes in both the cell and

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Mikaeili, Hajar. "Investigating the role of FXN antisense transcript 1 in Friedreich ataxia." Thesis, Brunel University, 2017. http://bura.brunel.ac.uk/handle/2438/16496.

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Friedreich ataxia (FRDA) is a neurodegenerative disorder that is inherited in an autosomal recessive pattern. The most common FRDA mutation is hyperexpansion of a GAA triplet repeat sequence in the first intron of the affected gene, frataxin (FXN), resulting in decreased frataxin protein expression. The hyperexpanded GAA repeats can adopt unusual DNA structures and induce aberrant epigenetic changes leading to heterochromatin mediated gene silencing. Several epigenetic changes, including increased levels of DNA methylation, histone modifications, repressive chromatin formation and elevated lev

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Anjomani, Virmouni Sara. "Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells." Thesis, Brunel University, 2013. http://bura.brunel.ac.uk/handle/2438/7831.

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Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene, resulting in reduced level of frataxin protein. Normal individuals have 5 to 40 GAA repeat sequences, whereas affected individuals have approximately 70 to more than 1000 GAA triplets. Frataxin is a mitochondrial protein involved in iron-sulphur cluster and heme biosynthesis. The reduction in frataxin expression leads to oxidative stress, mitochondrial iron accumulation and consequential cell death with the primary sites of neurons of the dor

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34

Musegante, André Ferraz de Arruda. "Sintomas urinários e achados urodinâmicos em pacientes com Ataxia de Friedreich." Escola de Medicina e Saúde Pública, 2013. http://www7.bahiana.edu.br//jspui/handle/bahiana/33.

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Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2015-04-09T20:59:45Z No. of bitstreams: 1 André Ferraz de Arruda Musegante.pdf: 704902 bytes, checksum: a90e566c7361d3e37222e3175a6958ac (MD5)<br>Made available in DSpace on 2015-04-09T20:59:45Z (GMT). No. of bitstreams: 1 André Ferraz de Arruda Musegante.pdf: 704902 bytes, checksum: a90e566c7361d3e37222e3175a6958ac (MD5) Previous issue date: 2013<br>Descrever os sintomas urinários e achados urodinâmicos de pacientes com Ataxia de Friedreich (AF) com sintomas do trato urinário inferior (LUTS). Métodos: Estudo prospectivo que avaliou 2

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Hick, Aurore. "Développement d'un nouveau modèle cellulaire de l'ataxie de Friedreich : différenciation de cellules pluripotentes induites de patients en cardiomyocytes." Thesis, Strasbourg, 2014. http://www.theses.fr/2014STRAJ064/document.

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L’ataxie de Friedreich (AF) est une maladie neurodégénérative récessive due à un déficit en frataxine, une protéine mitochondriale très conservée. Elle est souvent associée à une atteinte cardiaque. Le déficit en frataxine est responsable d’une diminution de l’activité des enzymes Fe-Set d’une accumulation mitochondriale de fer. Les cellules pluripotentes induites (iPS) générées par reprogrammation de cellules somatiques constituent un outil puissant pour le développement de modèles de maladies monogéniques. Les cardiomyocytes obtenus par différenciation des iPS de patients AF développent une

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De, Montigny Charline. "Compréhension de la neurophysiopathologie de l'ataxie de Friedreich et développement d'une approche de thérapie génique dans un nouveau modèle murin." Thesis, Strasbourg, 2018. http://www.theses.fr/2018STRAJ051/document.

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L’ataxie de Friedreich (AF) est une maladie mitochondriale caractérisée par une ataxie sensitive et spinocérébelleuse, une cardiomyopathie et du diabète, pour laquelle il n’existe pas de traitement. L’AF résulte de niveaux réduits de frataxine (FXN), une protéine mitochondriale impliquée dans la biosynthèse des centres Fe-S. La neurophysiopathologie précise de la maladie n’est pas identifiée et malgré d’intenses progrès ces dernières années, il n’existait pas de bon modèle pour développer des approches thérapeutiques visant à stopper ou réverser l’atteinte sensitive de l’AF. Nous avons donc gé

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37

Drecourt, Anthony. "Mécanisme physiopathologique des neurodégénérescences avec accumulation de fer dans le cerveau et de l’ataxie de Friedreich." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB061.

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Les neurodégénérescences avec accumulation de fer dans le cerveau (Neurodegeneration with Brain Iron Accumulation, NBIA) sont des maladies neurodégénératives progressives, génétiquement hétérogènes. On connait actuellement 11 gènes de ces maladies mais pour la plupart d’entre eux leur lien avec l’accumulation en fer est encore incompris. Ce travail de thèse présente deux nouveaux gènes de NBIA identifiés par séquençage d’exome dans deux familles indépendantes. Le premier gène, REPS1, est impliqué dans le recyclage de l’endosome. Les fibroblastes de patients sont caractérisés par une accumulati

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BENINI, MONICA. "Identification of the frataxin-specific E3 ligase as a potential therapeutic target for Friedreich’s Ataxia." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2015. http://hdl.handle.net/2108/203003.

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Friedreich’s ataxia (FRDA) is a rare debilitating, life-shortening, autosomal recessive inherited disease that leads to progressive damage to the nervous system. Onset is usually around the puberty and patients develop a progressive loss of motor coordination, inability to walk, slurred speech, and a cardiac hypertrophy that often leads to premature death. The particular genetic mutation – expansion of an intronic GAA triplet repeat in the FXN gene – leads to reduced expression of the mitochondrial protein frataxin involved in iron-sulfur cluster biogenesis. The subsequent frataxin insufficien

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SCHIAVI, ALFONSO. "Caenorhabditis elegans model for Friedreichs ataxia: investigate the role of autophagy in longevity and neurodegeneration." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2013. http://hdl.handle.net/2108/202227.

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Severemitochondriadeﬁciencyleadstoanumberofdevastatingdegenerativedisorders,yet,mildmitochondrialdysfunctionindifferentspecies,includingthenematodeCaenorhabditiselegans(C.elegans),canhavepro-longevity effects. We previously proposed that, following mild mitochondrial stress, protective stress responses pathways are activated in a hormetic-like fashion, andultimatelyaccountforextendedanimalslifespan. Frataxin(frh-1inC.elegans)isamitochondrialproteinmainlyinvolvediniron-sulfurclustersbiogenesis and iron homeostasis. Complete absence of frataxin is lethal in different species including C. elegans

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Sandi, Madhavi. "Identification and quantification of FXN antisense transcript 1 (FAST-1) in Friedreich ataxia." Thesis, Brunel University, 2015. http://bura.brunel.ac.uk/handle/2438/12464.

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Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused by expanded GAA repeats in the FXN gene, resulting in local epigenetic changes and reduced expression of the mitochondrial protein frataxin. The disease is characterised by neurodegeneration of large sensory neurons of the dorsal root ganglia and spinocerebellar tracts. It has been recently reported that a novel frataxin antisense transcript, FAST-1, is overexpressed in FRDA patient derived fibroblasts. However, the lack of fundamental information about FAST-1 gene such as size, sequence, length and its

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Gouelle, Arnaud. "Développement d’un score de stabilité chez les personnes présentant des pathologies d’origine neurologique entraînant des troubles de la marche et/ou de l’équilibre." Thesis, Paris 11, 2011. http://www.theses.fr/2011PA113006/document.

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De nombreux troubles ont un retentissement sur le contrôle de l’équilibre dynamique au cours de la marche. Qu’ils soient d’origine traumatique, neurologique, ou liés à la sénescence, ils limitent plus ou moins la stabilité, c’est-à-dire la capacité des sujets à récupérer de perturbations internes ou externes, et peuvent conduire à la chute. Chez les enfants, la stabilité est de plus liée aux étapes développementales. Son interprétation nécessite donc de différencier ce qui relève de l’instabilité développementale et de l’instabilité pathologique. Les techniques instrumentées d’analyse du mouve

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Alsina, Obiols David. "Estudi de les adaptacions metabòliques derivades del dèficit de frataxina en Saccharomyces cerevisiae." Doctoral thesis, Universitat de Lleida, 2016. http://hdl.handle.net/10803/390945.

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El dèficit de la proteïna frataxina en humans dóna lloc a la malaltia coneguda com Atàxia de Friedreich. Frataxina és una proteïna altament conservada, i des del seu descobriment s’han utilitzat diferents models d’estudi com el llevat Saccharomyces cerevisiae per a estudiar-ne la seva funció i els fenotips derivats de la seva manca. En aquest treball s’ha utilitzat un model condicional de llevat per estudiar els fenotips derivats del dèficit de frataxina. Els resultats obtinguts mostren que després de la repressió de frataxina hi ha una adaptació metabòlica impulsada per les proteïnes Adr1 i C

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Purroy, Lledós Rosa. "Cardiomiòcits de rata com a model d'Atàxia de Friedreich: alteracions cel·lulars i aproximacions terapèutiques." Doctoral thesis, Universitat de Lleida, 2018. http://hdl.handle.net/10803/665220.

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L’Atàxia de Friedreich és una malaltia neurodegenerativa hereditària amb afectació cardíaca per la qual no existeix cap teràpia efectiva. És causada per una disminució de la proteïna mitocondrial frataxina. Actualment, la funció precisa d’aquesta proteïna està en discussió però s’associa amb l’homeòstasi del ferro i l’estrès oxidatiu. Per a estudiar les conseqüències de la manca de frataxina s’ha utilitzat un model cardíac basat en cultius primaris de cardiomiòcits de rates nounades. En aquest treball s’ha detectat que el dèficit de frataxina provoca i) alteració del porus de transició de perm

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Parent, Aubérie. "Mécanisme de biogenèse des centres Fe/S chez les mammifères : rôle de la frataxine dans le contrôle de la réactivité des persulfures." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T071/document.

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L’ataxie de Friedreich est une maladie neurodégénérative sévère causée par un défaut d’expression de la frataxine (FXN), une petite protéine mitochondriale impliquée dans la biogenèse des centres fer-soufre (Fe/S), des groupement prosthétiques aux fonctions cellulaires essentielles. Chez les mammifères, il a été montré que la frataxine stimule la synthèse in vitro de centres Fe/S sur la protéine d’échaffaudage ISCU, grâce à l’augmentation de la production d’ions sulfures par le complexe NFS1-ISD11-ISCU. Cependant, le mécanisme par lequel la frataxine active la biogenèse des centres Fe/S n’a pa

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Perdomini, Morgane. "Développement d'une thérapie génique dans le modèle murin cardiaque de l'ataxie de Friedreich en utilisant le vecteur adéno-associé rAAVrh10." Thesis, Strasbourg, 2013. http://www.theses.fr/2013STRAJ105.

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L’ataxie de Friedreich (AF) est une maladie mitochondriale caractérisée par une ataxie spinocérébelleuse et sensitive, une cardiomyopathie et un diabète. L’AF est due à un déficit en frataxine (FXN), une protéine mitochondriale impliquée dans la synthèse des centres Fe-S et l’homéostasie mitochondriale. L’atteinte cardiaque, pour laquelle il n’existe aucun traitement, est la cause principale de décès. Nous avons montré que l’injection intraveineuse d’un vecteur adéno-associé (AAV) rh10 exprimant la FXN humaine prévient le développement de la cardiomyopathie d’un modèle souris de l’AF mais auss

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Jiralerspong, Sarn. "Loss of iron homeostasis in Friedreich ataxia cells and impairment of the oxidative stress response." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33413.

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Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by reduced expression of the mitochondrial protein frataxin and characterized by a debilitating loss of coordination. In yeast, complete loss of frataxin causes mitochondrial iron accumulation and oxidative stress. Although FRDA cells exhibit impaired respiratory complex activity and greater sensitivity to hydrogen peroxide-induced apoptotic cell death, an increase in steady-state mitochondrial iron levels has not been conclusively shown. Pulse-chase experiments using FRDA fibroblasts suggest that severe disturbances in iron metab

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Britti, Elena. "Dorsal Root Ganglion neurons as a model of Friedreich Ataxia: cellular alterations and therapeutic approaches." Doctoral thesis, Universitat de Lleida, 2021. http://hdl.handle.net/10803/672306.

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L’Atàxia de Friedreich (FA) és un trastorn neurodegeneratiu associat a cardiomiopatia causat per la disminució dels nivells de frataxina, una proteïna mitocondrial que se’n desconeix la seva funció. Participa en el metabolisme del ferro, però aquest treball també mostra el seu paper en l’homeòstasi del calci. Per estudiar els fonaments de la malaltia, el nostre grup va desenvolupar un model basat en cultius primaris de neurones dels ganglis de l'arrel dorsal (GAD) per descobrir que la deficiència de frataxina condueix a i) despolarització mitocondrial; ii) disminució dels nivells de l’intercan

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Balagué, Cabasés Eudald. "Teràpia gènica basada en un vector viral adenoassociat per al tractament d’un model de ratolí d’atàxia de Friedreich." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/671640.

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L’atàxia de Friedreich (FRDA) és una malaltia neurodegenerativa, hereditària autosòmica recessiva, causada per la deficiència de la proteïna frataxina (FXN) deguda a l’expansió patològica del triplet GAA intrònic en el gen FXN. Es caracteritza principalment per una atàxia progressiva, pèrdua sensorial i cardiomiopatia hipertròfica. La neurodegeneració s’identifica en les neurones dels DRG, els nervis sensorials perifèrics, les columnes posteriors i el nucli dentat cerebel·lós. En l’actualitat no existeix tractament, però diverses proves de concepte han evidenciat el potencial terapèutic de la

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Khonsari, Hassan. "Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts." Thesis, Brunel University, 2015. http://bura.brunel.ac.uk/handle/2438/12889.

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Friedreich ataxia (FRDA) is a progressive neurodegenerative disease with primary sites of pathology in the large sensory neurons of the dorsal root ganglia (DRG) and dentate nucleus of the cerebellum. FRDA is also often accompanied by severe cardiomyopathy and diabetes mellitus. FRDA is caused by loss of frataxin (FXN) expression, which is due to GAA repeat expansion in intron 1 of the FXN gene. Frataxin is a mitochondrial protein important in iron-sulphur cluster (ISC) biogenesis and in the electron transport chain (ETC). As a consequence of impaired mitochondrial energy metabolism, FRDA cell

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MASSARO, DAMIANO SERGIO. "Drug Reprofile for Friedreich’s Ataxia: Screening of an FDA-Approved Drugs Library searching for small molecules that increase Frataxin." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2015. http://hdl.handle.net/2108/203080.

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Freidreich’s Ataxia (FRDA) is a neurodegenerative, autosomal hereditary disease characterized by progressive neurodegeneration, cardiomyopathy and increased incidence of diabetes. The disease is caused by a trinucleotide GAA repeat expansion within the first intron of the gene coding for frataxin protein (FXN). Pathological GAA expansion (from ~70 to >1,000 triplets) results in “sticky” DNA structures and epigenetic changes that severely reduce transcription of the gene. FRDA patients live with 10-30% residual frataxin. The severity of the disease is proportionally related to the number of

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