Results 51 to 60 of about 10,061 (229)

Gene regulation and epigenotype in Friedreich's ataxia [PDF]

, 2008
Friedreich??????s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA.
Rothe, Nadine, Rothe, Nadine
core   +2 more sources

Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich’s ataxia

Human Molecular Genetics, 2022
Frataxin deficiency in Friedreich’s ataxia results from transcriptional downregulation of the FXN gene caused by expansion of the intronic trinucleotide guanine-adenine-adenine (GAA) repeats.
Yanjie Li, Jixue Li, Jia-ling Wang, Siyuan Zhang, Keith E. Giles, T. P. Prakash, F. Rigo, Jill S. Napierala, M. Napierala   +8 more
semanticscholar   +1 more source

Frataxin overexpressing mice

FEBS Letters, 2004
Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated.
Miranda, C, Santos, M M, Ohshima, K, Tessaro, Marco, Sequeiros, Jorge, Pandolfo, Massimo   +5 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

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting [PDF]

, 2019
The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed ...
Blair, Ian A., Farmer, Jennifer, Hersch, Steven, Larkindale, Jane, Lynch, David R., Napierala, Jill, Napierala, Marek, Payne, R. Mark, Subramony, Sub H.   +8 more
core   +1 more source

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi, Al-Mahdawi, Al-Mahdawi, Albano, Bidichandani, Brandon Brown, Brian D. Scott, Bridwell-Rabb, Campuzano, Catterall, Chantrel-Groussard, Chorley, Chutake, Condò, Cossée, Cox, De Biase, Deutsch, Drechsel, Dürr, Fahey, Filla, Florestano, Frank, Friedman, Gino A. Cortopassi, Greene, Hashemy, Heike Wulff, Huang, Kalinin, Kensler, Kim, Kim, Koeppen, Koeppen, Kosower, Kosower, Kruger, Lai, Larkin, Liu, Lopert, Lu, Lu, Marissa Z. McMackin, Mark A. Pook, Miranda, Mittal Jasoliya, Montermini, Osburn, Paredes-Gonzalez, Paupe, Riah, Sandi, Sangster, Saveliev, Schmitz-Hübsch, Selak, Shan, Shan, Shan, Shelmire, Sinha, Streck, Subramaniam, Sunil Sahdeo, Susan L. Perlman, Tan, Tan, Tella, Verdon, Wang, Wang, Weaver, Willis, Yang, Yu, Zhang   +78 more
core   +1 more source

Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response

Disease Models & Mechanisms, 2022
Friedreich ataxia, the most common hereditary ataxia, is a neuro- and cardio-degenerative disorder caused, in most cases, by decreased expression of the mitochondrial protein frataxin. Cardiomyopathy is the leading cause of premature death.
M. G. Cotticelli, S. Xia, R. Truitt, N. Doliba, A. V. Rozo, J. Tobias, Taehee Lee, Justin Chen, Jill S. Napierala, M. Napierala, Wenli Yang, R. B. Wilson   +11 more
semanticscholar   +1 more source

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. [PDF]

, 2011
Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 ...
ACQUAVIVA, Fabio, ANTENORA, ANTONELLA, CARLOMAGNO, guido, CITTADINI, ANTONIO, COCOZZA, SERGIO, DE MICHELE, GIUSEPPE, Denaro A., FILLA, ALESSANDRO, GUACCI, ANNA, Marsili A., Perrotta G., PIRO, RAFFAELE, Puorro G., SACCA', FRANCESCO   +13 more
core   +1 more source

A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins

Molecular Therapy: Nucleic Acids, 2013
TALEs targeting a promoter sequence and fused with a transcription activation domain (TAD) may be used to specifically induce the expression of a gene as a potential treatment for haploinsufficiency.
Pierre Chapdelaine, Zoé Coulombe, Amina Chikh, Catherine Gérard, Jacques P Tremblay   +4 more
doaj   +1 more source

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons

Molecular Neurodegeneration, 2012
Background Friedreich’s ataxia (FRDA) is a neurodegenerative disease caused by deficiency of the mitochondrial iron chaperone frataxin (Fxn). FRDA has no cure, but disease-modifying strategies to increase frataxin are under study.
Franco Carolina, Fernández Silvia, Torres-Alemán Ignacio   +2 more
doaj   +1 more source