Results 41 to 50 of about 3,918 (176)

Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblasts.

PLoS ONE, 2011
Dramatic advances in recent decades in understanding the genetics of Friedreich ataxia (FRDA)--a GAA triplet expansion causing greatly reduced expression of the mitochondrial protein frataxin--have thus far yielded no therapeutic dividend, since there ...
Kevin Kemp, Elizabeth Mallam, Kelly Hares, Jonathan Witherick, Neil Scolding, Alastair Wilkins   +5 more
doaj   +1 more source

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Scientific Reports, 2022
Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin.
Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani   +10 more
doaj   +1 more source

Chemical shift assignment of a thermophile frataxin [PDF]

Biomolecular NMR Assignments, 2017
Frataxin is the protein responsible for the genetically-inherited neurodegenerative disease Friedreich's ataxia caused by partial silencing of the protein and loss of function. Although the frataxin function is not yet entirely clear, it has been associated to the machine that builds iron-sulfur clusters, essential prosthetic groups involved in several
Rasheed M, Yan R, Kelly G, Pastore A
openaire   +4 more sources

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

PLoS ONE, 2009
BackgroundFriedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a (GAA)(
Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio   +9 more
doaj   +1 more source

Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study

Frontiers in Molecular Biosciences, 2022
This work studies the stability of wild-type frataxin and some of its variants found in cancer tissues upon Co2+ binding. Although the physiologically involved metal ion in the frataxin enzymatic activity is Fe2+, as it is customarily done, Co2+ is most ...
S. Morante, S. Morante, S. Botticelli, S. Botticelli, R. Chiaraluce, V. Consalvi, G. La Penna, G. La Penna, L. Novak, A. Pasquo, M. Petrosino, O. Proux, G. Rossi, G. Rossi, G. Rossi, G. Salina, F. Stellato, F. Stellato   +17 more
doaj   +1 more source

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

Pharmaceuticals, 2018
Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene.
David Alsina, Rosa Purroy, Joaquim Ros, Jordi Tamarit   +3 more
doaj   +1 more source

Coenzyme A mitigates cystine‐deprivation‐induced ferroptosis by suppressing the iron‐starvation response

The FEBS Journal, EarlyView.
Cystine (Cys2) deprivation in pancreatic cancer cells induces oxidative stress that destabilizes cytosolic iron–sulfur cluster (ISC) proteins, triggering an iron‐regulatory protein (IRP)‐mediated iron‐starvation response (ISR). This leads to increased iron uptake (via TFRC), an expanded labile iron pool, and ferroptosis.
Mingjun Tan, Yunzhan Li, Lei Sang, Min Wang, Qin Li, Zekun Li, Dongxiao Sun, Xiuchao Wang, Shengyu Yang   +8 more
wiley   +1 more source

Transcript correlation analysis for the identification of novel plant genes involved in iron metabolism and beyond: what next?

Plant Biology, EarlyView.
Transcript correlation analysis allowed the identification of several key nodes in the complex regulatory network of plant iron metabolism. Abstract Arabidopsis thaliana was the first plant genome to be fully sequenced, almost a quarter of a century ago, thanks to The Arabidopsis Genome Initiative, with contributions from scientists worldwide.
I. Murgia, P. Morandini
wiley   +1 more source

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.

PLoS ONE, 2008
BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo   +8 more
doaj   +1 more source

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

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
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 ...
Flavia De Toni, Mohamed Hamdani, Chintan Patadia, Gopi Shankar   +3 more
wiley   +1 more source