Works matching DE "FRATAXIN"

Results: 200

CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.

Published in:

Biochemical Journal, 2023, v. 480, n. 19, p. 1533, doi. 10.1042/BCJ20230244

By:

Gentili, Hernan G.;
Pignataro, María Florencia;
Olmos, Justo;
Pavan, María Florencia;
Itatí Ibañez, Lorena;
Santos, Javier;
Velazquez Duarte, Francisco

Publication type:

Article

Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia.

Published in:

Biochemical Journal, 2021, v. 478, n. 1, p. 1, doi. 10.1042/BCJ20200331

By:

Britti, Elena;
Delaspre, Fabien;
Sanz-Alcázar, A.;
Medina-Carbonero, Marta;
Llovera, Marta;
Purroy, Rosa;
Mincheva-Tasheva, Stefka;
Tamarit, Jordi;
Ros, Joaquim

Publication type:

Article

Overexpression of Drosophila frataxin triggers cell death in an iron-dependent manner.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 4, p. 189, doi. 10.1080/01677063.2017.1363200

By:

Edenharter, Oliver;
Clement, Janik;
Schneuwly, Stephan;
Navarro, Juan A.

Publication type:

Article

Structural and Functional Characterization of CreFH1, the Frataxin Homolog from Chlamydomonas reinhardtii.

Published in:

Plants (2223-7747), 2022, v. 11, n. 15, p. 1931, doi. 10.3390/plants11151931

By:

Terenzi, Agustina;
Pagani, Maria A.;
Gomez-Casati, Diego F.;
Busi, Maria V.

Publication type:

Article

Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1110, doi. 10.1002/acn3.52027

By:

Shen, Megan M.;
Rummey, Christian;
Lynch, David R.

Publication type:

Article

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 540, doi. 10.1002/acn3.51971

By:

Clayton, Russell;
Galas, Teresa;
Scherer, Noreen;
Farmer, Jennifer;
Ruiz, Nancy;
Hamdani, Mohamed;
Schecter, Devin;
Bettoun, David

Publication type:

Article

Selected missense mutations impair frataxin processing in Friedreich ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 8, p. 575, doi. 10.1002/acn3.433

By:

Clark, Elisia;
Butler, Jill S.;
Isaacs, Charles J.;
Napierala, Marek;
Lynch, David R.

Publication type:

Article

Frataxin levels in peripheral tissue in Friedreich ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225

By:

Lazaropoulos, Michael;
Dong, Yina;
Clark, Elisia;
Greeley, Nathaniel R.;
Seyer, Lauren A.;
Brigatti, Karlla W.;
Christie, Carlton;
Perlman, Susan L.;
Wilmot, George R.;
Gomez, Christoper M.;
Mathews, Katherine D.;
Yoon, Grace;
Zesiewicz, Theresa;
Hoyle, Chad;
Subramony, Sub H.;
Brocht, Alicia F.;
Farmer, Jennifer M.;
Wilson, Robert B.;
Deutsch, Eric C.;
Lynch, David R.

Publication type:

Article

Identification of p38 MAPK as a novel therapeutic target for Friedreich’s ataxia.

Published in:

Scientific Reports, 2018, p. 1, doi. 10.1038/s41598-018-23168-x

By:

Cotticelli, M. Grazia;
Shujuan Xia;
Kaur, Avinash;
Lin, Daniel;
Yongping Wang;
Ruff, Eric;
Tobias, John W.;
Wilson, Robert B.

Publication type:

Article

Protoporphyrin IX Binds to Iron(II)-Loaded and to Zinc-Loaded Human Frataxin.

Published in:

Life (2075-1729), 2023, v. 13, n. 1, p. 222, doi. 10.3390/life13010222

By:

Bernardo-Seisdedos, Ganeko;
Schedlbauer, Andreas;
Pereira-Ortuzar, Tania;
Mato, José M.;
Millet, Oscar

Publication type:

Article

Genome-Wide Identification, Characterization and Expression Profiling of Potato (Solanum tuberosum) Frataxin (FH) Gene.

Published in:

Genes, 2023, v. 14, n. 2, p. 468, doi. 10.3390/genes14020468

By:

Kurt, Firat;
Filiz, Ertugrul;
Yildiz, Kubra;
Akbudak, M. Aydın

Publication type:

Article

Synthesis of frataxin genes by direct assembly of serial deoxyoligonucleotide primers and its expression in Escherichia coli.

Published in:

Biotechnology & Bioprocess Engineering, 2013, v. 18, n. 2, p. 382, doi. 10.1007/s12257-012-0613-1

By:

Yoon, Young;
Park, Sun;
Lee, Jee;
Yan, Chunlan;
Park, Chan;
Koob, Michael;
Yoo, Young

Publication type:

Article

Friedreich's ataxia – a case of aberrant transcription termination?

Published in:

Transcription (2154-1264), 2015, v. 6, n. 2, p. 33, doi. 10.1080/21541264.2015.1026538

By:

Butler, Jill Sergesketter;
Napierala, Marek

Publication type:

Article

Low apolipoprotein A-I levels in Friedreich’s ataxia and in frataxin-deficient cells: Implications for therapy.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192779

By:

Wang, QingQing;
Guo, Lili;
Strawser, Cassandra J.;
Hauser, Lauren A.;
Hwang, Wei-Ting;
Snyder, Nathaniel W.;
Lynch, David R.;
Mesaros, Clementina;
Blair, Ian A.

Publication type:

Article

Analyzing the Effects of a G137V Mutation in the FXN Gene.

Published in:

Frontiers in Molecular Neuroscience, 2015, v. 8, p. 1, doi. 10.3389/fnmol.2015.00066

By:

Faggianelli, Nathalie;
Puglisi, Rita;
Veneziano, Liana;
Romano, Silvia;
Frontali, Marina;
Vannocci, Tommaso;
Fortuni, Silvia;
Testi, Roberto;
Pastore, 4 Annalisa;
Koch, Philipp;
Atanasov, Atanas G.

Publication type:

Article

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.

Published in:

Nature Medicine, 2014, v. 20, n. 5, p. 542, doi. 10.1038/nm.3510

By:

Perdomini, Morgane;
Belbellaa, Brahim;
Monassier, Laurent;
Reutenauer, Laurence;
Messaddeq, Nadia;
Cartier, Nathalie;
Crystal, Ronald G;
Aubourg, Patrick;
Puccio, Hélène

Publication type:

Article

A Dynamic Model of the Proteins that Form the Initial Iron-Sulfur Cluster Biogenesis Machinery in Yeast Mitochondria.

Published in:

Protein Journal, 2013, v. 32, n. 3, p. 183, doi. 10.1007/s10930-013-9475-4

By:

Amela, I.;
Delicado, P.;
Gómez, A.;
Querol, E.;
Cedano, J.

Publication type:

Article

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09002-5

By:

Rodden, Layne N.;
Gilliam, Kaitlyn M.;
Lam, Christina;
Rojsajjakul, Teerapat;
Mesaros, Clementina;
Dionisi, Chiara;
Pook, Mark;
Pandolfo, Massimo;
Lynch, David R.;
Blair, Ian A.;
Bidichandani, Sanjay I.

Publication type:

Article

Friedreich's Ataxia – A Clinical Diagnosis.

Published in:

2015

By:

Islam, Md. Fekarul;
Mukherjee, Devdeep;
Kundu, Ritabrata;
Das, Joydeep

Publication type:

Case Study

A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1352311

By:

Yi Na Dong;
Ngaba, Lucie Vanessa;
An, Jacob;
Adeshina, Miniat W.;
Warren, Nathan;
Wong, Johnathan;
Lynch, David R.

Publication type:

Article

Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich’s ataxia iPSC-derived neurons.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1323491

By:

Priyanka Mishra;
Anusha Sivakumar;
Avalon Johnson;
Carla Pernaci;
Anna S. Warden;
Lilas Rony El-Hachem;
Emily Hansen;
Rafael A. Badell-Grau;
Veenita Khare;
Gabriela Ramirez;
Sydney Gillette;
Angelyn B. Solis;
Peng Guo;
Nicole Coufal;
Stephanie Cherqui

Publication type:

Article

Emerging antioxidant therapies in Friedreich's ataxia.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1359618

By:

Edzeamey, Fred Jonathan;
Ramchunder, Zenouska;
Pourzand, Charareh;
Virmouni, Sara Anjomani

Publication type:

Article

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .

Published in:

Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620

By:

Di Donfrancesco, Alessia;
Berlingieri, Christian;
Giacomello, Marta;
Frascarelli, Chiara;
Magalhaes Rebelo, Ana Paula;
Bindoff, Laurence A.;
Reeval, Segel;
Renbaum, Paul;
Santorelli, Filippo M.;
Massaro, Giulia;
Viscomi, Carlo;
Zeviani, Massimo;
Ghezzi, Daniele;
Bottani, Emanuela;
Brunetti, Dario

Publication type:

Article

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.

Published in:

Frontiers in Pharmacology, 2014, v. 5, p. 1, doi. 10.3389/fphar.2014.00130

By:

Martelli, Alain;
Puccio, Hélène;
Yanev, Stanislav;
Tica, Andrei Adrian

Publication type:

Article

Nitric oxide and frataxin: two players contributing to maintain cellular iron homeostasis.

Published in:

Annals of Botany, 2010, v. 105, n. 5, p. 801, doi. 10.1093/aob/mcp147

By:

Ramirez, Leonor;
Zabaleta, Eduardo Julián;
Lamattina, Lorenzo

Publication type:

Article

Exploring frataxin function.

Published in:

IUBMB Life, 2012, v. 64, n. 1, p. 56, doi. 10.1002/iub.577

By:

Busi, Maria V.;
Gomez-Casati, Diego F.

Publication type:

Article

On the Effect of Sodium Chloride and Sodium Sulfate on Cold Denaturation.

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133550

By:

Pica, Andrea;
Graziano, Giuseppe

Publication type:

Article

Molecular Insights into Frataxin-Mediated Iron Supply for Heme Biosynthesis in Bacillus subtilis.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122538

By:

Mielcarek, Andreas;
Blauenburg, Bastian;
Miethke, Marcus;
Marahiel, Mohamed A.

Publication type:

Article

The Pathogenesis of Cardiomyopathy in Friedreich Ataxia.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116396

By:

Koeppen, Arnulf H.;
Ramirez, R. Liane;
Becker, Alyssa B.;
Bjork, Sarah T.;
Levi, Sonia;
Santambrogio, Paolo;
Parsons, Patrick J.;
Kruger, Pamela C.;
Yang, Karl X.;
Feustel, Paul J.;
Mazurkiewicz, Joseph E.

Publication type:

Article

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain.

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101718

By:

Bird, Matthew J.;
Needham, Karina;
Frazier, Ann E.;
van Rooijen, Jorien;
Leung, Jessie;
Hough, Shelley;
Denham, Mark;
Thornton, Matthew E.;
Parish, Clare L.;
Nayagam, Bryony A.;
Pera, Martin;
Thorburn, David R.;
Thompson, Lachlan H.;
Dottori, Mirella

Publication type:

Article

Yeast Frataxin Is Stabilized by Low Salt Concentrations: Cold Denaturation Disentangles Ionic Strength Effects from Specific Interactions.

Published in:

PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0095801

By:

Sanfelice, Domenico;
Puglisi, Rita;
Martin, Stephen R.;
Di Bari, Lorenzo;
Pastore, Annalisa;
Temussi, Piero Andrea

Publication type:

Article

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093464

By:

Lai, Yanhao;
Beaver, Jill M.;
Lorente, Karla;
Melo, Jonathan;
Ramjagsingh, Shyama;
Agoulnik, Irina U.;
Zhang, Zunzhen;
Liu, Yuan

Publication type:

Article

Bioenergetics of the Calf Muscle in Friedreich Ataxia Patients Measured by 31P-MRS Before and After Treatment with Recombinant Human Erythropoietin.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069229

By:

Nachbauer, Wolfgang;
Boesch, Sylvia;
Schneider, Rainer;
Eigentler, Andreas;
Wanschitz, Julia;
Poewe, Werner;
Schocke, Michael

Publication type:

Article

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063958

By:

Plasterer, Heather L.;
Deutsch, Eric C.;
Belmonte, Matthew;
Egan, Elizabeth;
Lynch, David R.;
Rusche, James R.

Publication type:

Article

Genetic Variations Creating MicroRNA Target Sites in the FXN 3'-UTR Affect Frataxin Expression in Friedreich Ataxia.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054791

By:

Bandiera, Simonetta;
Cartault, François;
Jannot, Anne-Sophie;
Hatem, Elie;
Girard, Muriel;
Rifai, Laila;
Loiseau, Clemence;
Munnich, Arnold;
Lyonnet, Stanislas;
Henrion-Caude, Alexandra

Publication type:

Article

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047847

By:

Haiyan Xia;
Yun Cao;
Xiaoman Dai;
Marelja, Zvonimir;
Di Zhou;
Ran Mo;
Al-Mahdawi, Sahar;
Pook, Mark A.;
Leimkühler, Silke;
Rouault, Tracey A.;
Kuanyu Li

Publication type:

Article

Protein Stability and Dynamics Modulation: The Case of Human Frataxin.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045743

By:

Roman, Ernesto A.;
Faraj, Santiago E.;
Gallo, Mariana;
Salvay, Andres G.;
Ferreiro, Diego U.;
Santos, Javier;
Pastore, Annalisa

Publication type:

Article

Long Range Regulation of Human FXN Gene Expression.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022001

By:

Puspasari, Novita;
Rowley, Simone M.;
Gordon, Lavinia;
Lockhart, Paul J.;
Ioannou, Panos A.;
Delatycki, Martin B.;
Sarsero, Joseph P.

Publication type:

Article

The Role of CyaY in Iron Sulfur Cluster Assembly on the E. coli IscU Scaffold Protein.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021992

By:

Iannuzzi, Clara;
Adinolfi, Salvatore;
Howes, Barry D.;
Garcia-Serres, Ricardo;
Clémancey, Martin;
Latour, Jean-Marc;
Smulevich, Giulietta;
Pastore, Annalisa

Publication type:

Article

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021017

By:

Navarro, Juan A.;
Llorens, José V.;
Soriano, Sirena;
Botella, José A.;
Schneuwly, Stephan;
Martínez-Sebastián, María J.;
Moltó, María D.

Publication type:

Article

Differential Expression of PGC-1&agr; and Metabolic Sensors Suggest Age-Dependent Induction of Mitochondrial Biogenesis in Friedreich Ataxia Fibroblasts.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020666

By:

García-Giménez, José Luis;
Gimeno, Amparo;
Gonzalez-Cabo, Pilar;
Dasi, Francisco;
Bolinches-Amorós, Arantxa;
Mollá, Belén;
Palau, Francesc;
Pallardo, Federico V.

Publication type:

Article

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design.

Published in:

PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017627

By:

Saccà, Francesco;
Puorro, Giorgia;
Antenora, Antonella;
Marsili, Angela;
Denaro, Alessandra;
Piro, Raffaele;
Sorrentino, Pierpaolo;
Pane, Chiara;
Tessa, Alessandra;
Morra, Vincenzo Brescia;
Cocozza, Sergio;
De Michele, Giuseppe;
Santorelli, Filippo M.;
Filla, Alessandro

Publication type:

Article

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/ NFS1/ISD11 Iron-Sulfur Assembly Complex.

Published in:

PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016199

By:

Schmucker, Stéphane;
Martelli, Alain;
Colin, Florent;
Page, Adeline;
Wattenhofer-Donzé, Marie;
Reutenauer, Laurence;
Puccio, Hélène

Publication type:

Article

Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2.

Published in:

PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012286

By:

Kuanyu Li;
Singh, Anamika;
Crooks, Daniel R.;
XiaomanDai;
Zhuangzhuang Cong;
Liang Pan;
Dung Ha;
Rouault, Tracey A.

Publication type:

Article

Transposon Tn7 Preferentially Inserts into GAANTTC Triplet Repeats under Conditions Conducive to YNRNY Triplex Formation.

Published in:

PLoS ONE, 2010, v. 5, n. 6, p. 1, doi. 10.1371/journal.pone.0011121

By:

Mancuso, Miriam;
Sammarco, Mimi C.;
Grabczyk, Ed

Publication type:

Article

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia.

Published in:

PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006379

By:

Calmels, Nadège;
Schmucker, Stéphane;
Wattenhofer-Donzé, Marie;
Martelli, Alain;
Vaucamps, Nadège;
Reutenauer, Laurence;
Messaddeq, Nadia;
Bouton, Cé cile;
Koenig, Michel;
Puccio, Hélène

Publication type:

Article

Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia.

Published in:

PLoS ONE, 2009, v. 4, n. 1, p. 1, doi. 10.1371/journal.pone.0004253

By:

Paupe, Vincent;
Dassa, Emmanuel P.;
Goncalves, Sergio;
Auchère, Françoise;
Lönn, Maria;
Holmgren, Arne;
Rustin, Pierre

Publication type:

Article

HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model.

Published in:

PLoS ONE, 2008, v. 3, n. 4, p. 1, doi. 10.1371/journal.pone.0001958

By:

Rai, Myriam;
Soragni, Elisabetta;
Jenssen, Kai;
Burnett, Ryan;
Herman, David;
Coppola, Giovanni;
Geschwind, Daniel H.;
Gottesfeld, Joel M.;
Pandolfo, Massimo

Publication type:

Article

Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question.

Published in:

FASEB Journal, 2010, v. 24, n. 7, p. 2152, doi. 10.1096/fj.09-143222

By:

Armstrong, Jeffrey S.;
Khdour, Omar;
Hecht, Sidney M.

Publication type:

Article

Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.

Published in:

Journal of Biological Inorganic Chemistry (JBIC), 2018, v. 23, n. 4, p. 495, doi. 10.1007/s00775-018-1550-z

By:

Vanlander, A. V.;
Van Coster, R.

Publication type:

Article