Results 101 to 110 of about 5,449 (210)

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

PLoS ONE, 2013
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription ...
Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude   +9 more
doaj   +1 more source

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

BMC Neurology, 2009
Background Pharmacological high-throughput screening (HTS) represents a powerful strategy for drug discovery in genetic diseases, particularly when the full spectrum of pathological dysfunctions remains unclear, such as in Friedreich ataxia (FRDA). FRDA,
Haiech Jacques, Hibert Marcel, Reutenauer Laurence, Villa Pascal, Seznec Hervé, Calmels Nadège, Rustin Pierre, Koenig Michel, Puccio Hélène   +8 more
doaj   +1 more source

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues

, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
core  

Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.

PLoS ONE, 2010
BackgroundFriedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously demonstrated that frataxin interacts with complex II subunits of the electronic transport chain (ETC) and putative ...
Pilar Gonzalez-Cabo, Sheila Ros, Francesc Palau   +2 more
doaj   +1 more source

Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia

Biology Open, 2016
Friedreich ataxia is a neurodegenerative disease caused by a GAA triplet repeat expansion in the first intron of the frataxin gene, which results in reduced expression levels of the corresponding protein.
Dörte Poburski, Josefine Barbara Boerner, Michel Koenig, Michael Ristow, René Thierbach   +4 more
doaj   +1 more source

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +1 more source

Frataxin: from the sequence to the biological role. [PDF]

Biophys Rev
Frataxin is a small protein involved in the rare disease Friedreich's ataxia. During the last few years, significant knowledge has been gained concerning frataxin folding, structure, dynamics, and function. In eukaryotic organisms, it is located in the mitochondrial matrix, and recently, its macromolecular context was revealed.
Pignataro MF, Noguera ME, Herrera MG, Roman EA, Santos J.   +4 more
europepmc   +4 more sources

Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response

Redox Biology
Friedreich ataxia (FA) is a rare neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Frataxin has been related in iron homeostasis, energy metabolism, and oxidative stress. Ferroptosis has recently been shown to be
Arabela Sanz-Alcázar, Marta Portillo-Carrasquer, Fabien Delaspre, Maria Pazos-Gil, Jordi Tamarit, Joaquim Ros, Elisa Cabiscol   +6 more
doaj   +1 more source

Cisplatin May Induce Frataxin Expression

Journal of Nippon Medical School, 2003
Cisplatin is a widely used drug in cancer chemotherapy and resistance to cisplatin is a major limitation for its successful application. Intracellular inactivation of cisplatin and detoxification of reactive oxygen species (ROS) by glutathione (a crucial cellular antioxidant) is a mechanism for cisplatin resistance.
openaire   +3 more sources

Iron metabolism in mice with partial frataxin deficiency.

, 2003
Friedreich ataxia (FRDA), the most common autosomal recessive inherited ataxic disorder, is the consequence of deficiency of the mitochondrial protein frataxin, typically caused by homozygous intronic GAA expansions in the corresponding gene.
Pandolfo, Massimo, Miranda, C, Koenig, Michel, Levy, Joanne E., Montross, Lynne K., Cossée, Mireille, Santos, Manuela M., Santos, M M, Sequeiros, Jorge, Andrews, Nancy, Levy, Joanne E, Miranda, Carlos J., Montross, Lynne K   +12 more
core   +1 more source