Results 71 to 80 of about 10,061 (229)

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Chiranjeevi eSandi, Chiranjeevi eSandi, Madhavi eSandi, Mark Adrian Pook, Sahar eAl-Mahdawi, Sara eAnjomani-Virmouni   +5 more
core   +2 more sources

The mitochondrial protein frataxin prevents nuclear damage [PDF]

Human Molecular Genetics, 2002
The mitochondrial protein frataxin helps maintain appropriate iron levels in the mitochondria of yeast and humans. A deficiency of this protein in humans causes Friedreich's ataxia, while its complete absence in yeast (Delta yfh1 mutant) results in loss of mitochondrial DNA, apparently due to radicals generated by excess iron. We found that the absence
Gopalakrishnan, Karthikeyan, L Kevin, Lewis, Michael A, Resnick   +2 more
openaire   +2 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

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

Nature Communications, 2019
Iron-sulfur (Fe-S) clusters are essential protein cofactors whose biosynthetic defects lead to severe diseases among which is Friedreich’s ataxia caused by impaired expression of frataxin (FXN).
Sylvain Gervason, Djabir Larkem, A. Mansour, Thomas Botzanowski, C. S. Müller, L. Pecqueur, G. Le Pavec, A. Delaunay-Moisan, Omar Brun, J. Agramunt, A. Grandas, M. Fontecave, V. Schünemann, S. Cianférani, C. Sizun, M. Tolédano, B. D'Autréaux   +16 more
semanticscholar   +1 more source

Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice

RNA Biology, 2022
Friedreich’s ataxia (FA) is an inherited neurodegenerative disorder caused by decreased expression of frataxin (FXN) protein. Previous studies have shown that antisense oligonucleotides (ASOs) and single-stranded silencing RNAs can be used to increase ...
Audrius Kilikevicius, Jia-ling Wang, Xiulong Shen, F. Rigo, Thahza P. Prakash, M. Napierala, D. Corey   +6 more
semanticscholar   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +2 more sources

Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

Frontiers in Molecular Neuroscience, 2022
Computational techniques for analyzing biological images offer a great potential to enhance our knowledge of the biological processes underlying disorders of the nervous system. Friedreich’s Ataxia (FRDA) is a rare progressive neurodegenerative inherited
Diana C. Muñoz-Lasso, Belén Mollá, J. J. Sáenz-Gamboa, E. Insuasty, María de la Iglesia-Vayá, M. Pook, F. Pallardó, F. Palau, P. González-Cabo   +8 more
semanticscholar   +1 more source

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

Frontiers in Cellular Neuroscience, 2014
Friedreich ataxia is considered a neurodegenerative disorder involving both the peripheral and central nervous systems. Dorsal root ganglia (DRG) are the major target tissue structures.
Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Belén eMollá, Belén eMollá, Belén eMollá, David ePla-Martín, David ePla-Martín, David ePla-Martín, Francesc ePalau, Francesc ePalau, Francesc ePalau, Francesc ePalau, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo   +15 more
doaj   +1 more source

Modelling Protein Plasticity: The Example of Frataxin and Its Variants

Molecules, 2022
Frataxin (FXN) is a protein involved in storage and delivery of iron in the mitochondria. Single-point mutations in the FXN gene lead to reduced production of functional frataxin, with the consequent dyshomeostasis of iron.
S. Botticelli, G. La Penna, Germano Nobili, G. Rossi, F. Stellato, S. Morante   +5 more
semanticscholar   +1 more source