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https://www.readbyqxmd.com/read/29342155/nanoscopic-x-ray-fluorescence-imaging-and-quantification-of-intracellular-key-elements-in-cryofrozen-friedreich-s-ataxia-fibroblasts
#1
Björn De Samber, Eline Meul, Brecht Laforce, Boel De Paepe, Joél Smet, Michiel De Bruyne, Riet De Rycke, Sylvain Bohic, Peter Cloetens, Rudy Van Coster, Peter Vandenabeele, Tom Vanden Berghe
Synchrotron radiation based nanoscopic X-ray fluorescence (SR nano-XRF) analysis can visualize trace level elemental distribution in a fully quantitative manner within single cells. However, in-air XRF analysis requires chemical fixation modifying the cell's chemical composition. Here, we describe first nanoscopic XRF analysis upon cryogenically frozen (-150°C) fibroblasts at the ID16A-NI 'Nano-imaging' end-station located at the European Synchrotron Radiation Facility (ESRF) in Grenoble (France). Fibroblast cells were obtained from skin biopsies from control and Friedreich's ataxia (FRDA) patients...
2018: PloS One
https://www.readbyqxmd.com/read/29341839/activation-of-frataxin-protein-expression-by-antisense-oligonucleotides-targeting-the-mutant-expanded-repeat
#2
Liande Li, Xiulong Shen, Zhongtian Liu, Michaela Norrbom, Thazha P Prakash, Daniel O'Reilly, Vivek K Sharma, Masad J Damha, Jonathan K Watts, Frank Rigo, David R Corey
Friedreich's Ataxia (FA) is an inherited neurologic disorder caused by an expanded GAA repeat within intron 1 of the frataxin (FXN) gene that reduces expression of FXN protein. Agents that increase expression of FXN have the potential to alleviate the disease. We previously reported that duplex RNAs (dsRNAs) and antisense oligonucleotides (ASOs) complementary to the GAA repeat could enhance expression of FXN protein. We now explore the potential of a diverse group of chemically modified dsRNAs and ASOs to define the breadth of repeat-targeted synthetic nucleic acids as a platform for therapeutic development for FA...
January 17, 2018: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/29329987/quantitative-proteomics-in-friedreich-s-ataxia-b-lymphocytes-a-valuable-approach-to-decipher-the-biochemical-events-responsible-for-pathogenesis
#3
Lorène Télot, Elodie Rousseau, Emmanuel Lesuisse, Camille Garcia, Bastien Morlet, Thibaut Léger, Jean-Michel Camadro, Valérie Serre
Friedreich's ataxia (FRDA) represents the most frequent type of autosomal-recessively inherited ataxia and is caused by the deficiency of frataxin, a mitochondrial protein. It is known that frataxin-deficiency leads to alterations in cellular and mitochondrial iron metabolism and impacts in the cell physiology at several levels. Frataxin is thought to play a role in iron-sulfur cluster biogenesis and heme synthesis. Currently, cellular antioxidant defense is dysregulated when frataxin is deficient, which exacerbates oxidative damage in FRDA...
January 9, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29327279/emotion-recognition-and-psychological-comorbidity-in-friedreich-s-ataxia
#4
Teresa Costabile, Veronica Capretti, Filomena Abate, Agnese Liguori, Francesca Paciello, Chiara Pane, Anna De Rosa, Silvio Peluso, Giuseppe De Michele, Alessandro Filla, Francesco Saccà
Friedreich's ataxia (FRDA) is an autosomal recessive disease presenting with ataxia, corticospinal signs, peripheral neuropathy, and cardiac abnormalities. Little effort has been made to understand the psychological and emotional burden of the disease. The aim of our study was to measure patients' ability to recognize emotions using visual and non-verbal auditory hints, and to correlate this ability with psychological, neuropsychological, and neurological variables. We included 20 patients with FRDA, and 20 age, sex, and education matched healthy controls (HC)...
January 11, 2018: Cerebellum
https://www.readbyqxmd.com/read/29325611/autosomal-recessive-cerebellar-ataxias
#5
Brent L Fogel
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#6
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325032/effect-of-diazoxide-on-friedreich-ataxia-models
#7
Antonella Santoro, Sara Anjomani Virmouni, Eleonora Paradies, Valentina L Villalobos Coa, Sahar Al-Mahdawi, Mee Khoo, Vito Porcelli, Angelo Vozza, Mara Perrone, Nunzio Denora, Franco Taroni, Giuseppe Merla, Luigi Palmieri, Mark A Pook, Carlo M T Marobbio
Friedreich ataxia (FRDA) is an inherited recessive disorder caused by a deficiency in the mitochondrial protein frataxin. There is currently no effective treatment for FRDA available, especially for neurological deficits. In this study, we tested diazoxide, a drug commonly used as vasodilator in the treatment of acute hypertension, on cellular and animal models of FRDA. We first showed that diazoxide increases frataxin protein levels in FRDA lymphoblastoid cell lines, via the mTOR pathway. We then explored the potential therapeutic effect of diazoxide in frataxin-deficient transgenic YG8sR mice and we found that prolonged oral administration of 3mpk/d diazoxide was found to be safe, but produced variable effects concerning efficacy...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29323772/the-role-of-nrf2-signaling-in-counteracting-neurodegenerative-diseases
#8
REVIEW
Albena T Dinkova-Kostova, Rumen V Kostov, Aleksey G Kazantsev
The transcription factor Nrf2 (nuclear factor erythroid 2 p45-related factor 2) functions at the interface of cellular redox and intermediary metabolism. Nrf2 target genes encode antioxidant enzymes, and proteins involved in xenobiotic detoxification, repair and removal of damaged proteins and organelles, inflammation, and mitochondrial bioenergetics. The function of Nrf2 is altered in many neurodegenerative disorders, such as Huntington's disease, Alzheimer's disease, amyotrophic lateral sclerosis and Friedreich's ataxia...
January 11, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29299392/rapid-neurophysiological-screening-for-sensory-ganglionopathy-a-novel-approach
#9
Panagiotis Zis, Marios Hadjivassiliou, Ptolemaios Georgios Sarrigiannis, Alexander St John Edward Barker, Dasappaiah Ganesh Rao
Background and Aim: Pure sensory neuropathies involving the dorsal root ganglia are commonly referred to as sensory ganglionopathies (SG). Causes of SG can be inherited (as seen in Friedreich's ataxia) or acquired (e.g. immune-mediated or paraneoplastic). Diagnostic criteria for confirming SG have been published and consist of a combination of clinical and neurophysiological parameters. The aim of our study was to develop a neurophysiological method for rapid screening for diagnosis of SG...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29279305/friedreich-and-dominant-ataxias-quantitative-differences-in-cerebellar-dysfunction-measurements
#10
Audrey Tanguy Melac, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa, Sylvia Boesch, Thomas Klopstock, Jennifer Müller Vom Hagen, Thomas Klockgether, Katrin Bürk, Jörg B Schulz, Kathrin Reetz, Massimo Pandolfo, Alexandra Durr, Sophie Tezenas du Montcel
BACKGROUND: Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction. METHODS: We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained...
December 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29261783/somatic-instability-of-the-expanded-gaa-repeats-in-friedreich-s-ataxia
#11
Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala
Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded GAA tracts are genetically unstable, exhibiting both expansions and contractions. GAA length correlates with severity of FRDA symptoms and inversely with age of onset. Thus, tissue-specific somatic instability of long GAA repeats may be implicated in the development of symptoms and disease progression...
2017: PloS One
https://www.readbyqxmd.com/read/29259026/early-vglut1-specific-parallel-fiber-synaptic-deficits-and-dysregulated-cerebellar-circuit-in-the-kiko-mouse-model-of-friedreich-ataxia
#12
Hong Lin, Jordi Magrane, Elisia M Clark, Sarah M Halawani, Nathan Warren, Amy Rattelle, David R Lynch
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with progressive ataxia that affects both the peripheral and central nervous system (CNS). While later CNS neuropathology involves loss of large principal neurons and glutamatergic and GABAergic synaptic terminals in the cerebellar dentate nucleus, early pathological changes in FRDA cerebellum remain largely uncharacterized. Here, we report early cerebellar VGLUT1 (SLC17A7)-specific parallel fiber (PF) synaptic deficits and dysregulated cerebellar circuit in the frataxin knock-in/knockout (KIKO) FRDA mouse model...
December 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29228015/development-of-an-iron-selective-antioxidant-probe-with-protective-effects-on-neuronal-function
#13
Olimpo García-Beltrán, Natalia P Mena, Pabla Aguirre, Germán Barriga-González, Antonio Galdámez, Edgar Nagles, Tatiana Adasme, Cecilia Hidalgo, Marco T Núñez
Iron accumulation, oxidative stress and calcium signaling dysregulation are common pathognomonic signs of several neurodegenerative diseases, including Parkinson´s and Alzheimer's diseases, Friedreich ataxia and Huntington's disease. Given their therapeutic potential, the identification of multifunctional compounds that suppress these damaging features is highly desirable. Here, we report the synthesis and characterization of N-(1,3-dihydroxy-2-(hydroxymethyl)propan-2-yl)-2-(7-hydroxy-2-oxo-2H-chromen-4-yl)acetamide, named CT51, which exhibited potent free radical neutralizing activity both in vitro and in cells...
2017: PloS One
https://www.readbyqxmd.com/read/29223733/mitochondrial-pore-opening-and-loss-of-ca2-exchanger-nclx-levels-occur-after-frataxin-depletion
#14
R Purroy, E Britti, F Delaspre, J Tamarit, J Ros
Frataxin-deficient neonatal rat cardiomyocytes and dorsal root ganglia neurons have been used as cell models of Friedreich ataxia. In previous work we show that frataxin depletion resulted in mitochondrial swelling and lipid droplet accumulation in cardiomyocytes, and compromised DRG neurons survival. Now, we show that these cells display reduced levels of the mitochondrial calcium transporter NCLX that can be restored by calcium-chelating agents and by external addition of frataxin fused to TAT peptide. Also, the transcription factor NFAT3, involved in cardiac hypertrophy and apoptosis, becomes activated by dephosphorylation in both cardiomyocytes and DRG neurons...
December 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29212862/ataxia-with-oculomotor-apraxia-type-2-an-evolving-axonal-neuropathy
#15
Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlden
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich's ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years...
December 6, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29204047/friedreich-ataxia-clinical-feature-and-electrophysiological-symptoms
#16
Masayoshi Oguri
No abstract text is available yet for this article.
October 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29200434/iron-induced-oligomerization-of-human-fxn81-210-and-bacterial-cyay-frataxin-and-the-effect-of-iron-chelators
#17
Eva-Christina Ahlgren, Mostafa Fekry, Mathias Wiemann, Christopher A Söderberg, Katja Bernfur, Olex Gakh, Morten Rasmussen, Peter Højrup, Cecilia Emanuelsson, Grazia Isaya, Salam Al-Karadaghi
Patients suffering from the progressive neurodegenerative disease Friedreich's ataxia have reduced expression levels of the protein frataxin. Three major isoforms of human frataxin have been identified, FXN42-210, FXN56-210 and FXN81-210, of which FXN81-210 is considered to be the mature form. Both long forms, FXN42-210 and FXN56-210, have been shown to spontaneously form oligomeric particles stabilized by the extended N-terminal sequence. The short variant FXN81-210, on other hand, has only been observed in the monomeric state...
2017: PloS One
https://www.readbyqxmd.com/read/29197070/the-role-of-oxidative-stress-in-friedreich-s-ataxia
#18
REVIEW
Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai, Annalisa Pastore
Oxidative stress and increase in the levels of free radicals are important markers associated with several pathologies, including Alzheimer's disease, cancer and diabetes. Friedreich's ataxia is an excellent paradigmatic example of a disease in which oxidative stress plays an important, albeit not completely understood, role. Friedreich's ataxia is a rare genetic neurodegenerative disease which involves partial silencing of frataxin, a small mitochondrial protein completely ignored before being linked to Friedreich's ataxia...
December 2, 2017: FEBS Letters
https://www.readbyqxmd.com/read/29192133/synthetic-transcription-elongation-factors-license-transcription-across-repressive-chromatin
#19
Graham S Erwin, Matthew P Grieshop, Asfa Ali, Jun Qi, Matthew Lawlor, Deepak Kumar, Istaq Ahmad, Anna McNally, Natalia Teider, Katie Worringer, Rajeev Sivasankaran, Deeba N Syed, Asuka Eguchi, Md Ashraf, Justin Jeffery, Mousheng Xu, Paul M C Park, Hasan Mukhtar, Achal K Srivastava, Mohammed Faruq, James E Bradner, Aseem Z Ansari
Releasing a paused RNA polymerase II into productive elongation is tightly-regulated, especially at genes that impact human development and disease. To exert control over this rate-limiting step, we designed sequence-specific synthetic transcription elongation factors (Syn-TEFs). These molecules are composed of programmable DNA-binding ligands flexibly tethered to a small molecule that engages the transcription elongation machinery. By limiting activity to targeted loci, Syn-TEFs convert constituent modules from broad-spectrum inhibitors of transcription into gene-specific stimulators...
November 30, 2017: Science
https://www.readbyqxmd.com/read/29179232/differentially-regulated-cell-free-micrornas-in-the-plasma-of-friedreich-s-ataxia-patients-and-their-association-with-disease-pathology
#20
Subrahamanyam Dantham, Achal K Srivastava, Sheffali Gulati, Moganty R Rajeswari
No abstract text is available yet for this article.
November 27, 2017: Neuropediatrics
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