Works matching DE "FRATAXIN"

Results: 200

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

A-093 Neuropsychological Functioning in an 8-year-old female with Friedreich's Ataxia.

Published in:: 2020
Publication type:: Abstract

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

Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0288-5

By:

Koeppen, Arnulf H.;
Ramirez, R. Liane;
Becker, Alyssa B.;
Mazurkiewicz, Joseph E.

Publication type:

Article

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2093

By:

Angulo, Mariana B.;
Bertalovitz, Alexander;
Argenziano, Mariana A.;
Yang, Jiajia;
Patel, Aarti;
Zesiewicz, Theresa;
McDonald, Thomas V.

Publication type:

Article

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

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

Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1179, doi. 10.1177/0883073812448535

By:

Payne, R. Mark;
Wagner, Gregory R.

Publication type:

Article

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1164, doi. 10.1177/0883073812448533

By:

Soragni, Elisabetta;
Xu, Chunping;
Plasterer, Heather L.;
Jacques, Vincent;
Rusche, James R.;
Gottesfeld, Joel M.

Publication type:

Article

Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1159, doi. 10.1177/0883073812448460

By:

Deutsch, Eric C.;
Seyer, Lauren A.;
Perlman, Susan L.;
Yu, Jeanette;
Lynch, David R.

Publication type:

Article

Novel Diagnostic Paradigms for Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1146, doi. 10.1177/0883073812448440

By:

Brigatti, Karlla W.;
Deutsch, Eric C.;
Lynch, David R.;
Farmer, Jennifer M.

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

PEP-1-Frataxin Significantly Increases Cell Proliferation and Neuroblast Differentiation by Reducing Lipid Peroxidation in the Mouse Dentate Gyrus.

Published in:

Neurochemical Research, 2011, v. 36, n. 12, p. 2452, doi. 10.1007/s11064-011-0574-3

By:

Kim, Woosuk;
Kim, Dae;
Shin, Bich;
Yoo, Dae;
Nam, Sung;
Kim, Mi;
Choi, Jung;
Yoon, Yeo;
Won, Moo-Ho;
Choi, Soo;
Hwang, In

Publication type:

Article

Friedreich ataxia in Norway -- an epidemiological, molecular and clinical study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4

By:

Wedding, Iselin Marie;
Kroken, Mette;
Henriksen, Sandra Pilar;
Selmer, Kaja Kristine;
Fiskerstrand, Torunn;
Knappskog, Per Morten;
Berge, Tone;
Tallaksen, Chantal M. E.

Publication type:

Article

Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.

Published in:

2018

By:

Kemp, Kevin C.;
Hares, Kelly;
Redondo, Juliana;
Cook, Amelia J.;
Haynes, Harry R.;
Burton, Bronwen R.;
Pook, Mark A.;
Rice, Claire M.;
Scolding, Neil J.;
Wilkins, Alastair

Publication type:

journal article

Modelling Protein Plasticity: The Example of Frataxin and Its Variants.

Published in:

Molecules, 2022, v. 27, n. 6, p. 1955, doi. 10.3390/molecules27061955

By:

Botticelli, Simone;
La Penna, Giovanni;
Nobili, Germano;
Rossi, Giancarlo;
Stellato, Francesco;
Morante, Silvia

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

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

The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis.

Published in:

Nature Cell Biology, 2011, v. 13, n. 3, p. 273, doi. 10.1038/ncb2200

By:

Kuhlbrodt, Kirsten;
Janiesch, Philipp Christoph;
Kevei, Éva;
Segref, Alexandra;
Barikbin, Roja;
Hoppe, Thorsten

Publication type:

Article

Sense and sensibility: Lessons from science/medical news writing.

Published in:

Medical Writing, 2020, v. 29, n. 3, p. 85

By:

Fernandes, Joana

Publication type:

Article

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice.

Published in:

Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00264

By:

Mollá, Belén;
Muñoz-Lasso, Diana C.;
Riveiro, Fátima;
Bolinches-Amorós, Arantxa;
Pallardó, Federico V.;
Fernandez-Vilata, Angel;
de la Iglesia-Vaya, María;
Palau, Francesc;
Gonzalez-Cabo, Pilar

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

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

Friedreichova ataxie - co jsme se naučili za 160 let.

Published in:

Neurologie Pro Praxi, 2024, v. 25, n. 4, p. 296, doi. 10.36290/neu.2024.046

By:

Vališ, Martin;
Halúsková, Simona;
Matyáš, David;
Hemerková, Pavlína

Publication type:

Article

Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06962-4

By:

Salinas, Lili;
Montgomery, Claire B.;
Figueroa, Francisco;
Thai, Phung N.;
Chiamvimonvat, Nipavan;
Cortopassi, Gino;
Dedkova, Elena N.

Publication type:

Article

Mitochondrial De Novo Assembly of Iron–Sulfur Clusters in Mammals: Complex Matters in a Complex That Matters.

Published in:

Inorganics, 2022, v. 10, n. 3, p. 31, doi. 10.3390/inorganics10030031

By:

Perfitt, Tyler L.;
Martelli, Alain

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

Epigenetic-based therapies for Friedreich ataxia.

Published in:

Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00165

By:

Sandi, Chiranjeevi;
Sandi, Madhavi;
Virmouni, Sara Anjomani;
Al-Mahdawi, Sahar;
Pook, Mark A.

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

Biophysical characterisation of the recombinant human frataxin precursor.

Published in:

FEBS Open Bio, 2018, v. 8, n. 3, p. 390, doi. 10.1002/2211-5463.12376

By:

Castro, Ignacio Hugo;
Ferrari, Alejandro;
Herrera, María Georgina;
Noguera, Martín Ezequiel;
Maso, Lorenzo;
Benini, Monica;
Rufini, Alessandra;
Testi, Roberto;
Costantini, Paola;
Santos, Javier

Publication type:

Article

The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin.

Published in:

FEBS Open Bio, 2013, v. 3, p. 310, doi. 10.1016/j.fob.2013.07.004

By:

Faraj, Santiago E.;
Venturutti, Leandro;
Roman, Ernesto A.;
Marino-Buslje, Cristina B.;
Mignone, Astor;
Tosatto, Silvio C.E.;
Delfino, José M.;
Santos, Javier

Publication type:

Article

The role of the N‐terminal tail for the oligomerization, folding and stability of human frataxin.

Published in:

FEBS Open Bio, 2013, v. 3, n. 1, p. 310, doi. 10.1016/j.fob.2013.07.004

By:

Faraj, Santiago E.;
Venturutti, Leandro;
Roman, Ernesto A.;
Marino-Buslje, Cristina B.;
Mignone, Astor;
Tosatto, Silvio C. E.;
Delfino, José M.;
Santos, Javier

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

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

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

Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy.

Published in:

Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05472-z

By:

Rojsajjakul, Teerapat;
Hordeaux, Juliette J.;
Choudhury, Gourav R.;
Hinderer, Christian J.;
Mesaros, Clementina;
Wilson, James M.;
Blair, Ian A.

Publication type:

Article

The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe- S biogenesis in E scherichia coli.

Published in:

Molecular Microbiology, 2015, v. 95, n. 4, p. 605, doi. 10.1111/mmi.12888

By:

Roche, Béatrice;
Huguenot, Allison;
Barras, Frédéric;
Py, Béatrice

Publication type:

Article

Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11470-9

By:

Gervason, Sylvain;
Larkem, Djabir;
Mansour, Amir Ben;
Botzanowski, Thomas;
Müller, Christina S.;
Pecqueur, Ludovic;
Le Pavec, Gwenaelle;
Delaunay-Moisan, Agnès;
Brun, Omar;
Agramunt, Jordi;
Grandas, Anna;
Fontecave, Marc;
Schünemann, Volker;
Cianférani, Sarah;
Sizun, Christina;
Tolédano, Michel B.;
D'Autréaux, Benoit

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

Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich’s Ataxia.

Published in:

PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0217776

By:

Jasoliya, Mittal;
Sacca, Francesco;
Sahdeo, Sunil;
Chedin, Frederic;
Pane, Chiara;
Brescia Morra, Vincenzo;
Filla, Alessandro;
Pook, Mark;
Cortopassi, Gino

Publication type:

Article

Rationale and protocol of a double-blind, randomized, placebo-controlled trial to test the efficacy, safety, and tolerability of dimethyl fumarate in Friedreich Ataxia (DMF-FA-201).

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1260977

By:

Pane, Chiara;
Marra, Alberto Maria;
Aliberti, Ludovica;
Campanile, Mario;
Coscetta, Federica;
Crisci, Giulia;
D'Assante, Roberta;
Marsili, Angela;
Puorro, Giorgia;
Salzano, Andrea;
Cittadini, Antonio;
Saccà, Francesco

Publication type:

Article

A new FRDA mouse model [Fxn<sup>null</sup>:YG8s(GAA) > 800] with more than 800 GAA repeats.

Published in:

Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.930422

By:

Kalef-Ezra, Ester;
Edzeamey, Fred Jonathan;
Valle, Adamo;
Khonsari, Hassan;
Kleine, Paula;
Oggianu, Carlo;
Al-Mahdawi, Sahar;
Pook, Mark A.;
Virmouni, Sara Anjomani

Publication type:

Article