Works matching DE "FRATAXIN"

Results: 203

Structural Basis for Fe--S Cluster Assembly and tRNA Thiolation Mediated by IscS Protein--Protein Interactions.

Published in:

PLoS Biology, 2010, v. 8, n. 4, p. 1, doi. 10.1371/journal.pbio.1000354

By:

Rong Shi;
Proteau, Ariane;
Villarroya, Magda;
Moukadiri, Ismaïl;
Linhua Zhang;
Trempe, Jean-François;
Matte, Allan;
Armengod, M. Eugenia;
Cygler, Miroslaw

Publication type:

Article

Modelling of Friedreich's Ataxia and other Genetic Disorders as Defective / Noisy Genetic Information Processing.

Published in:

Journal of Ultra Scientist of Physical Sciences - Section A (Mathematics), 2018, v. 30, n. 12, p. 409, doi. 10.22147/jusps-A/301201

By:

WAGH, SWASTI;
WAGH, D. K.

Publication type:

Article

Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.

Published in:

Cerebellum, 2017, v. 16, n. 4, p. 840, doi. 10.1007/s12311-017-0860-y

By:

Kemp, Kevin;
Dey, Rimi;
Cook, Amelia;
Scolding, Neil;
Wilkins, Alastair

Publication type:

Article

Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia.

Published in:

Cerebellum, 2012, v. 11, n. 4, p. 861, doi. 10.1007/s12311-012-0406-2

By:

Dey, Rimi;
Kemp, Kevin;
Gray, Elizabeth;
Rice, Claire;
Scolding, Neil;
Wilkins, Alastair

Publication type:

Article

Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.

Published in:

Cerebellum, 2011, v. 10, n. 4, p. 763, doi. 10.1007/s12311-011-0287-9

By:

Nachbauer, Wolfgang;
Hering, Sascha;
Seifert, Markus;
Steinkellner, Hannes;
Sturm, Brigitte;
Scheiber-Mojdehkar, Barbara;
Reindl, Markus;
Strasak, Alexander;
Poewe, Werner;
Weiss, Guenter;
Boesch, Sylvia

Publication type:

Article

The Neuropathology of Late-Onset Friedreich's Ataxia.

Published in:

Cerebellum, 2011, v. 10, n. 1, p. 96, doi. 10.1007/s12311-010-0235-0

By:

Koeppen, Arnulf;
Morral, Jennifer;
McComb, Rodney;
Feustel, Paul

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

Mitochondrial iron transport and homeostasis in plants.

Published in:

Frontiers in Plant Science, 2013, v. 4, p. 1, doi. 10.3389/fpls.2013.00348

By:

Jain, Anshika;
Connolly, Erin L.

Publication type:

Article

Mitochondrial Iron Transport and Homeostasis in Plants.

Published in:

Frontiers in Plant Science, 2013, v. 4, p. 1, doi. 10.3389/fpls.2013.00348

By:

Jain, Anshika;
Connolly, Erin L.

Publication type:

Article

The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions.

Published in:

Frontiers in Plant Science, 2013, v. 4, p. 1, doi. 10.3389/fpls.2013.00259

By:

Couturier, Jérémy;
Touraine, Brigitte;
Briat, Jean-François;
Gaymard, Frédéric;
Rouhier, Nicolas

Publication type:

Article

Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia.

Published in:

Case Reports in Neurological Medicine, 2016, p. 1, doi. 10.1155/2016/4515938

By:

Kurt, Semiha;
Cevik, Betul;
Aksoy, Durdane;
Sahbaz, E. Irmak;
Gundogdu Eken, Aslı;
Basak, A. Nazli

Publication type:

Article

Brain microvascular endothelial cells differentiated from a Friedreich's Ataxia patient iPSC are deficient in tight junction protein expression and paracellularly permeable.

Published in:

Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1511388

By:

Smith, Frances M.;
Kosman, Daniel J.

Publication type:

Article

Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk.

Published in:

Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1571402

By:

Quatrana, Andrea;
Petrillo, Sara;
Torda, Caterina;
De Santis, Eleonora;
Bertini, Enrico;
Piemonte, Fiorella

Publication type:

Article

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study.

Published in:

Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.638810

By:

Petrillo, Sara;
Santoro, Massimo;
La Rosa, Piergiorgio;
Perna, Alessia;
Gallo, Maria Giovanna;
Bertini, Enrico Silvio;
Silvestri, Gabriella;
Piemonte, Fiorella

Publication type:

Article

Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia.

Published in:

Clinical Science, 2016, v. 130, n. 11, p. 853, doi. 10.1042/CS20160072

By:

Chiang, Shannon;
Kovacevic, Zaklina;
Sahni, Sumit;
Lane, Darius J. R.;
Merlot, Angelica M.;
Kalinowski, Danuta S.;
Huang, Michael L.-H.;
Richardson, Des R.

Publication type:

Article

Friedreichova ataxie.

Published in:

Česká a Slovenská Neurologie a Neurochirurgie, 2024, v. 87, n. 6, p. 385

By:

Zumrová, A.;
Šťovíčková, L.

Publication type:

Article

Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.

Published in:

Neurological Sciences, 2013, v. 34, n. 8, p. 1459, doi. 10.1007/s10072-013-1402-0

By:

Clemm von Hohenberg, Christian;
Schocke, Michael;
Wigand, Marlene;
Nachbauer, Wolfgang;
Guttmann, Charles;
Kubicki, Marek;
Shenton, Martha;
Boesch, Sylvia;
Egger, Karl

Publication type:

Article

Variations of frataxin protein levels in normal individuals.

Published in:

Neurological Sciences, 2011, v. 32, n. 2, p. 327, doi. 10.1007/s10072-010-0326-1

By:

Boehm, Therese;
Scheiber-Mojdehkar, Barbara;
Kluge, Britta;
Goldenberg, Hans;
Laccone, Franco;
Sturm, Brigitte

Publication type:

Article

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Published in:

Neurological Sciences, 2010, v. 31, n. 3, p. 393, doi. 10.1007/s10072-009-0201-0

By:

Daiou, C.;
Christodoulou, K.;
Xiromerisiou, G.;
Panas, M.;
Dardiotis, E.;
Kladi, A.;
Speletas, M.;
Ntaios, G.;
Papadimitriou, A.;
Germenis, A.;
Hadjigeorgiou, Georgios

Publication type:

Article

Targeting RPLP2 Triggers DLBCL Ferroptosis by Decreasing FXN Expression.

Published in:

Biomedicines, 2025, v. 13, n. 6, p. 1320, doi. 10.3390/biomedicines13061320

By:

Guo, Jiaxing;
Yan, Bokang;
Li, Lingshu;
Peng, Yuanhao;
Lai, Weiwei;
Shen, Chanjuan

Publication type:

Article

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.

Published in:

Biomedicines, 2022, v. 10, n. 2, p. 425, doi. 10.3390/biomedicines10020425

By:

Puglisi, Rita

Publication type:

Article

A Combined Spectroscopic and In Silico Approach to Evaluate the Interaction of Human Frataxin with Mitochondrial Superoxide Dismutase.

Published in:

Biomedicines, 2021, v. 9, n. 12, p. 1763, doi. 10.3390/biomedicines9121763

By:

Doni, Davide;
Meggiolaro, Marta;
Santos, Javier;
Audran, Gérard;
Marque, Sylvain R. A.;
Costantini, Paola;
Bortolus, Marco;
Carbonera, Donatella

Publication type:

Article

Expression and processing of mature human frataxin after gene therapy in mice.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59060-0

By:

Rojsajjakul, Teerapat;
Selvan, Nithya;
De, Bishnu;
Rosenberg, Jonathan B.;
Kaminsky, Stephen M.;
Sondhi, Dolan;
Janki, Peter;
Crystal, Ronald G.;
Mesaros, Clementina;
Khanna, Richie;
Blair, Ian A.

Publication type:

Article

The Regulation of the Disease-Causing Gene FXN.

Published in:

Cells (2073-4409), 2024, v. 13, n. 12, p. 1040, doi. 10.3390/cells13121040

By:

Dong, Yi Na;
Mercado-Ayón, Elizabeth;
Coulman, Jennifer;
Flatley, Liam;
Ngaba, Lucie Vanessa;
Adeshina, Miniat W.;
Lynch, David R.

Publication type:

Article

Altered Expression of Mitoferrin and Frataxin, Larger Labile Iron Pool and Greater Mitochondrial DNA Damage in the Skeletal Muscle of Older Adults.

Published in:

Cells (2073-4409), 2020, v. 9, n. 12, p. 2579, doi. 10.3390/cells9122579

By:

Picca, Anna;
Saini, Sunil K.;
Mankowski, Robert T.;
Kamenov, George;
Anton, Stephen D.;
Manini, Todd M.;
Buford, Thomas W.;
Wohlgemuth, Stephanie E.;
Xiao, Rui;
Calvani, Riccardo;
Coelho-Júnior, Hélio José;
Landi, Francesco;
Bernabei, Roberto;
Hood, David A.;
Marzetti, Emanuele;
Leeuwenburgh, Christiaan

Publication type:

Article

Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup.

Published in:

Hippokratia, 2013, v. 17, n. 1, p. 38

By:

Muthuswamy, S.;
Agarwal, S.;
Dalal, A. R.

Publication type:

Article

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Published in:

Pharmaceuticals (14248247), 2018, v. 11, n. 3, p. 89, doi. 10.3390/ph11030089

By:

Alsina, David;
Purroy, Rosa;
Ros, Joaquim;
Tamarit, Jordi

Publication type:

Article

Role of contactin-1 axonal glycoprotein and polyphenol in a mice model of friedreich ataxia.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 144

By:

Bizzoca, Antonella;
Flace, Paolo;
Caracciolo, Martina;
Corsi, Patrizia;
Magrone, Thea;
Livrea, Paolo;
Jirillo, Emilio;
Gennarini, Gianfranco

Publication type:

Article

Friedreich's ataxia: clinical features, pathogenesis and management.

Published in:

British Medical Bulletin, 2017, v. 124, n. 1, p. 19, doi. 10.1093/bmb/ldx034

By:

Cook, A.;
Giunti, P.

Publication type:

Article

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.

Published in:

Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00124

By:

Bolinches-Amorós, Arantxa;
Mollá, Belén;
Pla-Martín, David;
Palau, Francesc;
González-Cabo, Pilar

Publication type:

Article

Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients.

Published in:

Frontiers in Neuroscience, 2019, p. 1, doi. 10.3389/fnins.2019.01054

By:

Pathak, Deepti;
Srivastava, Achal Kumar;
Padma, M. V.;
Gulati, Sheffali;
Rajeswari, Moganty R.

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

Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism.

Published in:

PLoS Genetics, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pgen.1005135

By:

Yoon, Heeyong;
Knight, Simon A. B.;
Pandey, Alok;
Pain, Jayashree;
Turkarslan, Serdar;
Pain, Debkumar;
Dancis, Andrew

Publication type:

Article

Turning Escherichia coli into a Frataxin-Dependent Organism.

Published in:

PLoS Genetics, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pgen.1005134

By:

Roche, Béatrice;
Agrebi, Rym;
Huguenot, Allison;
Ollagnier de Choudens, Sandrine;
Barras, Frédéric;
Py, Béatrice

Publication type:

Article

Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold.

Published in:

2015

By:

Dean, Dennis R.;
Dos Santos, Patricia C.

Publication type:

Opinion

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology.

Published in:

PLoS Genetics, 2010, v. 6, n. 1, p. 1, doi. 10.1371/journal.pgen.1000812

By:

Haugen, Astrid C.;
Di Prospero, Nicholas A.;
Parker, Joel S.;
Fannin, Rick D.;
Chou, Jeff;
Meyer, Joel N.;
Halweg, Christopher;
Collins, Jennifer B.;
Durr, Alexandra;
Fischbeck, Kenneth;
Van Houten, Bennett

Publication type:

Article

Iron-Sulfur (Fe/S) Protein Biogenesis: Phylogenomic and Genetic Studies of A-Type Carriers.

Published in:

PLoS Genetics, 2009, v. 5, n. 5, p. 1, doi. 10.1371/journal.pgen.1000497

By:

Vinella, Daniel;
Brochier-Armanet, Céline;
Loiseau, Laurent;
Talla, Emmanuel;
Barras, Frédé ric

Publication type:

Article

Frataxin and endothelial cell senescence in pulmonary hypertension.

Published in:

2021

By:

Lawrie, Allan;
Francis, Sheila E.

Publication type:

journal article

Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.

Published in:

2021

By:

Culley, Miranda K.;
Jingsi Zhao;
Yi Yin Tai;
Ying Tang;
Perk, Dror;
Negi, Vinny;
Qiujun Yu;
Woodcock, Chen-Shan C.;
Handen, Adam;
Speyer, Gil;
Seungchan Kim;
Yen-Chun Lai;
Taijyu Satoh;
Watson, Annie M. M.;
Al Aaraj, Yassmin;
Sembrat, John;
Rojas, Mauricio;
Goncharov, Dmitry;
Goncharova, Elena A.;
Khan, Omar F.

Publication type:

journal article

7. The pathogenesis of Friedreich cardiomyopathy: myocarditis.

Published in:

Canadian Journal of Neurological Sciences, 2015, v. 42, n. S2, p. S3, doi. 10.1017/cjn.2015.255

By:

Koeppen, A.H.;
Ramirez, R.L.;
Becker, A.B.;
Bjork, S.T.;
Feustel, P.J.;
Mazurkiewicz, J.E.

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

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

Plant Frataxin in Metal Metabolism.

Published in:

Frontiers in Plant Science, 2018, p. N.PAG, doi. 10.3389/fpls.2018.01706

By:

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

Publication type:

Article

Towards a metabolomic approach to investigate iron–sulfur cluster biogenesis.

Published in:

IUBMB Life, 2022, v. 74, n. 7, p. 715, doi. 10.1002/iub.2618

By:

Marengo, Mauro;
Fissore, Alex;
Oliaro‐Bosso, Simonetta;
Adinolfi, Salvatore;
Pastore, Annalisa

Publication type:

Article

Mitochondrial iron and calcium homeostasis in Friedreich ataxia.

Published in:

IUBMB Life, 2021, v. 73, n. 3, p. 543, doi. 10.1002/iub.2457

By:

Tamarit, Jordi;
Britti, Elena;
Delaspre, Fabien;
Medina‐Carbonero, Marta;
Sanz‐Alcázar, Arabela;
Cabiscol, Elisa;
Ros, Joaquim

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

Disruption of Higher Order DNA Structures in Friedreich’s Ataxia (GAA)<sub>n</sub> Repeats by PNA or LNA Targeting.

Published in:

PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0165788

By:

Bergquist, Helen;
Rocha, Cristina S. J.;
Álvarez-Asencio, Rubén;
Nguyen, Chi-Hung;
Rutland, Mark. W.;
Smith, C. I. Edvard;
Good, Liam;
Nielsen, Peter E.;
Zain, Rula

Publication type:

Article

Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159209

By:

Soriano, Sirena;
Calap-Quintana, Pablo;
Llorens, José Vicente;
Al-Ramahi, Ismael;
Gutiérrez, Lucía;
Martínez-Sebastián, María José;
Botas, Juan;
Moltó, María Dolores

Publication type:

Article

Crystal Structure of Bacillus subtilis Cysteine Desulfurase SufS and Its Dynamic Interaction with Frataxin and Scaffold Protein SufU.

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158749

By:

Blauenburg, Bastian;
Mielcarek, Andreas;
Altegoer, Florian;
Fage, Christopher D.;
Linne, Uwe;
Bange, Gert;
Marahiel, Mohamed A.

Publication type:

Article

Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151026

By:

Shen, Yan;
McMackin, Marissa Z.;
Shan, Yuxi;
Raetz, Alan;
David, Sheila;
Cortopassi, Gino

Publication type:

Article