Results 21 to 30 of about 5,449 (210)

Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei [PDF]

Proceedings of the National Academy of Sciences, 2008
Trypanosoma brucei , the agent of human sleeping sickness and ruminant nagana, is the most genetically tractable representative of the domain Excavata. It is evolutionarily very distant from humans, with a last common ancestor over 1 billion years ago.
Long, Shaojun, Jirků, Milan, Ayala, Francisco J, Lukeš, Julius   +3 more
openaire   +6 more sources

Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling. [PDF]

Clin Transl Sci
ABSTRACT Nomlabofusp is a recombinant, cell‐penetrating human frataxin (hFXN) fusion protein in development for the treatment of Friedreich's ataxia (FRDA). This study evaluated whether nomlabofusp‐derived hFXN concentrations covary across accessible peripheral matrices and FRDA‐relevant tissues, supporting the feasibility of surrogate tissue sampling ...
De Toni F, Hamdani M, Patadia C, Shankar G.   +3 more
europepmc   +2 more sources

Exploring frataxin function [PDF]

IUBMB Life, 2011
AbstractFrataxin is a nuclear‐encoded mitochondrial protein highly conserved in prokaryotes and eukaryotes. Its deficiency was initially described as the phenotype of Friedreich's ataxia, an autosomal recessive disease in humans. Although several functions have been described for frataxin, that is, involvement in Fe‐S cluster and heme synthesis, energy
Busi, María Victoria, Gomez Casati, Diego Fabian   +1 more
openaire   +3 more sources

PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

Neurobiology of Disease, 2021
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and increased incidence in diabetes.
Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina-Carbonero, Jordi Tamarit, Federico V. Pallardó, Pilar Gonzalez-Cabo, Joaquim Ros, David R. Lynch, Marc Martinell, Pilar Pizcueta   +13 more
doaj   +1 more source

Plant Frataxin in Metal Metabolism [PDF]

Frontiers in Plant Science, 2018
La frataxina es una proteína altamente conservada de procariotas a eucariotas. Se han postulado varias funciones relacionadas con el metabolismo del hierro para esta proteína, incluyendo el grupo Fe-S y la síntesis de hemo, la respuesta al daño oxidativo y la fosforilación oxidativa.
Diego F. Gomez‐Casati, María V. Busi, María A. Pagani   +2 more
openaire   +4 more sources

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model [PDF]

, 2012
Copyright © The Author 2012. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits ...
B. Tomassini, I. Condo, Ezzatizadeh, V, Condò, I, TOMASSINI, BARBARA, Sandi, C, Testi, R, Al Mahdawi, S, Arcuri, G, Pook, M, C. Sandi, Malisan, F, R. Testi, S. Fortuni, M. Pook, V. Ezzatizadeh, Tomassini, B, MALISAN, FLORENCE, Fortuni, S, Al-Mahdawi, S, S. Al Mahdawi, TESTI, ROBERTO, G. Arcuri, CONDO', IVANO, Casali, C, F. Malisan, CASALI, Carlo   +26 more
core   +1 more source

The Ferroxidase Activity of Yeast Frataxin [PDF]

Journal of Biological Chemistry, 2002
Frataxin is required for maintenance of normal mitochondrial iron levels and respiration. The mature form of yeast frataxin (mYfh1p) assembles stepwise into a multimer of 840 kDa (alpha(48)) that accumulates iron in a water-soluble form. Here, two distinct iron oxidation reactions are shown to take place during the initial assembly step (alpha ...
Sungjo, Park, Oleksandr, Gakh, Steven M, Mooney, Grazia, Isaya   +3 more
openaire   +2 more sources

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Pedersen, TL, Cortopassi, G, Newman, John W, Shen, Yan, Pedersen, Theresa L, Pook, Mark, Hayashi, G, Newman, JW, Pook, M, Hayashi, Genki, Cortopassi, Gino, Shen, Y   +11 more
core   +1 more source

Crystal Structure of Human Frataxin [PDF]

Journal of Biological Chemistry, 2000
Friedreich's ataxia, an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cardiomyopathy, and diabetes mellitus, is caused by decreased frataxin production or function. The structure of human frataxin, which we have determined at 1.8-A resolution, reveals a novel protein fold.
S, Dhe-Paganon, R, Shigeta, Y I, Chi, M, Ristow, S E, Shoelson   +4 more
openaire   +2 more sources

Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.

PLoS ONE, 2011
BackgroundFriedreich's ataxia (FA), the most frequent form of inherited ataxias in the Caucasian population, is caused by a reduced expression of frataxin, a highly conserved protein.
Juan A Navarro, José V Llorens, Sirena Soriano, José A Botella, Stephan Schneuwly, María J Martínez-Sebastián, María D Moltó   +6 more
doaj   +1 more source