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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.


Farr, X25, FXN
This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] (from NCBI)
Top mentioned proteins: ACID, CAN, Phosphogluconate Dehydrogenase, HAD, AGE
Papers using Farr antibodies
Foxp3 in control of the regulatory T cell lineage
Lafaille Juan J. et al., In The Journal of Experimental Medicine, 2006
... FarrA.G. 1997 TCR signaling regulates thymic organization: lessons from TCR-transgenic mice ...
Papers on Farr
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.
França et al., Curitiba, Brazil. In Cerebellum, Feb 2016
UNASSIGNED: Friedreich's ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA expansions in the FXN gene.
MiRNA-145 Regulates the Development of Congenital Heart Disease Through Targeting FXN.
Yang et al., Xi'an, China. In Pediatr Cardiol, Jan 2016
In this study, using high-throughput microarray analysis and molecular network analysis, FXN was identified to be the most differentially expressed key gene in CHD.
Evaluation of Bond Strength in Single-Cone Fillings of Canals with Different Cross-Sections.
de Sousa-Neto et al., Montes Claros, Brazil. In Int Endod J, Jan 2016
PGFA and PSFA were calculated in digital images (x25 magnification) of each slice.
Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia.
Evans-Galea et al., Australia. In Ann Neurol, Jan 2016
OBJECTIVE: Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy.
Friedreich Ataxia: From the Eye of a Molecular Biologist.
Agarwal et al., Lucknow, India. In Neurologist, Sep 2015
Friedreich ataxia (FRDA) is caused by the expansion of a GAA triplet repeat in the first intron of the FXN gene.
Milestones in Friedreich ataxia: more than a century and still learning.
Barsottini et al., São Paulo, Brazil. In Neurogenetics, Jul 2015
FRDA is caused by expanded guanine-adenine-adenine (GAA) triplet repeats in the first intron of the frataxin gene (FXN), resulting in reduction of messenger RNA and protein levels of frataxin in different tissues.
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
Puccio et al., Illkirch-Graffenstaden, France. In Cell Metab, Mar 2015
Mitochondrial iron accumulation is a hallmark of diseases associated with impaired iron-sulfur cluster (Fe-S) biogenesis, such as Friedreich ataxia linked to frataxin (FXN) deficiency.
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Schulz et al., Aachen, Germany. In Lancet Neurol, Feb 2015
Age of disease onset was inversely correlated with the number of GAA repeats in the frataxin (FXN) gene: every 100 GAA repeats on the smaller repeat allele was associated with a 2·3 year (SE 0·2) earlier onset.
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
Bulawa et al., Cambridge, United States. In Sci Rep, 2014
Friedreich's Ataxia is a genetic disease caused by expansion of an intronic trinucleotide repeat in the frataxin (FXN) gene yielding diminished FXN expression and consequently disease.
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Festenstein et al., London, United Kingdom. In Lancet, 2014
Expanded GAA repeats within intron 1 of the frataxin (FXN) gene lead to its heterochromatinisation and transcriptional silencing.
Pathophysiogical and therapeutic progress in Friedreich ataxia.
Tranchant et al., Illkirch-Graffenstaden, France. In Rev Neurol (paris), 2014
Friedreich ataxia (FRDA) is the most common hereditary autosomal recessive ataxia, but is also a multisystemic condition with frequent presence of cardiomyopathy or diabetes.
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
Puccio et al., Illkirch-Graffenstaden, France. In Nat Med, 2014
FRDA is caused by reduced levels of frataxin (FXN), an essential mitochondrial protein involved in the biosynthesis of iron-sulfur (Fe-S) clusters.
Epigenetic-based therapies for Friedreich ataxia.
Pook et al., London, United Kingdom. In Front Genet, 2013
Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced frataxin protein expression.
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
Puccio et al., Illkirch-Graffenstaden, France. In Front Pharmacol, 2013
Friedreich ataxia (FRDA) is the most common recessive ataxia in the Caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia frequently associating cardiomyopathy.
Heterotrifunctional chemical cross-linking mass spectrometry confirms physical interaction between human frataxin and ISU.
Busenlehner et al., Tuscaloosa, United States. In Biochemistry, 2012
Photoreactive heterotrifunctional chemical cross-linking confirmed the interaction between frataxin and ISCU in the presence of iron and validated that transient interactions can be covalently trapped with this method.
miR-886-3p levels are elevated in Friedreich ataxia.
Ratan et al., New York City, United States. In J Neurosci, 2012
Selective reduction in microRNA (miR)-886-3p by an anti-miR leads to elevation of FXN message and protein levels without associated changes in histone marks at the FXN locus.
Exonic deletions of FXN and early-onset Friedreich ataxia.
Koenig et al., Saint-Pierre-des-Corps, France. In Arch Neurol, 2012
Friedreich ataxia due to an exonic deletion mutation corresponds to an early onset and severe variant of frataxin Friedreich ataxia protein.
Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
Payne et al., Indianapolis, United States. In Hum Mol Genet, 2012
Data show that the respiratory chain defects accompanying frataxin deficiency cause progressive hyperacetylation of cardiac mitochondrial proteins due to the inhibition of SIRT3 deacetylase.
FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Sarsero et al., Australia. In Ann Neurol, 2012
These novel findings provide compelling evidence for the link between the GAA expansion, the DNA methylation profile, FXN expression, and clinical outcome in Friedreich ataxia
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.
Gottesfeld et al., Los Angeles, United States. In Cell Stem Cell, 2010
The inherited neurodegenerative disease Friedreich's ataxia (FRDA) is caused by GAA⋅TTC triplet repeat hyperexpansions within the first intron of the FXN gene, encoding the mitochondrial protein frataxin.
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