Frataxin

A protein involved in the transfer of iron and sulfur to iron-sulfur cluster (ISC) assembly complex for de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. Deficiency leads to the neurodegenerative disease FRIEDREICH ATAXIA.

Also Known As:

Networked: 767 relevant articles (16 outcomes, 30 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Lynch, David R: 47 articles (06/2022 - 05/2002)
2.	Napierala, Marek: 24 articles (10/2022 - 10/2002)
3.	Pastore, Annalisa: 24 articles (12/2019 - 06/2004)
4.	Pandolfo, Massimo: 22 articles (01/2022 - 02/2002)
5.	Testi, Roberto: 20 articles (01/2022 - 04/2005)
6.	Puccio, Hélène: 19 articles (12/2020 - 06/2002)
7.	Pook, Mark A: 18 articles (01/2022 - 06/2011)
8.	Isaya, Grazia: 17 articles (01/2017 - 02/2002)
9.	Gottesfeld, Joel M: 15 articles (10/2019 - 08/2006)
10.	Ros, Joaquim: 14 articles (01/2022 - 05/2006)

Related Diseases

1.	Friedreich Ataxia (Friedreich's Ataxia) 12/01/2015 - "Ongoing Phase II and III trials in both adults and children with FRDA were preceded by a small Phase I, open-label trial in children that showed that IFN-γ-1b was reasonably well-tolerated and improved overall neurological function as measured by the Friedreich Ataxia Rating Scale after 12 weeks of treatment, though the primary outcome measure of frataxin level showed no improvement. " 01/01/2018 - "Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment." 05/01/2014 - "It has recently been reported that rhuEPO increases frataxin levels in combination with clinical improvement in rhuEPO treated patients with Friedreich ataxia (FRDA). " 01/01/2014 - "An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models." 01/01/2018 - "Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model."
2.	Neurodegenerative Diseases (Neurodegenerative Disease) 04/09/2008 - "Lack of acute toxicity, normalization of frataxin levels and of the transcription profile changes resulting from frataxin deficiency provide strong support to a possible efficacy of this or related compounds in reverting the pathological process in Friedreich ataxia, a so far incurable neurodegenerative disease." 12/17/2019 - "We optimised the technique to study the effects of frataxin overexpression in a cellular model of Friedreich's ataxia, a neurodegenerative disease caused by partial silencing of the FXN gene. " 02/09/2016 - "The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich's Ataxia (FRDA). " 10/20/2023 - "Friedreich's ataxia (FA) is a neurodegenerative disease resulting from a mutation in the FXN gene, leading to mitochondrial frataxin deficiency. " 12/12/2022 - "In this context, this review article focuses on Friedreich ataxia (FA), a neurodegenerative disorder resulting from mutations within the gene encoding the Frataxin protein, which is involved in the control of mitochondrial function and oxidative metabolism. "
3.	Disease Progression 09/01/2018 - "Compounds that increase frataxin levels may enable effective therapeutic intervention for blunting disease progression. " 03/01/2015 - "There is an inverse correlation between the amount of residual frataxin and the severity of disease progression; therefore, therapeutic approaches aiming at increasing frataxin levels are expected to improve patients' conditions. " 01/01/2014 - "Most therapeutic strategies aim to increase frataxin, yet there are other underlying aspects of the molecular pathology that could impact disease progression and severity. " 08/20/2010 - "Augmentation of frataxin expression levels in affected Friedreich ataxia patient tissues might substantially slow disease progression. " 09/15/2012 - "Our results show that frataxin deficiency in yeast cells leads to increased DNA base oxidation and requirement of Apn1 for repair, suggesting that DNA damage and repair could be important features in FA disease progression."
4.	Ischemia 01/01/2018 - "Whether frataxin expression in Müller cells might improve their function and protect neurons after ischemia is unknown. " 01/01/2016 - "Increased Frataxin Levels Protect Retinal Ganglion Cells After Acute Ischemia/Reperfusion in the Mouse Retina In Vivo." 11/15/2010 - "In response to oxidative stress, frataxin has a significant ability to improve cell survival though its biological function is unclear in relation to ischemia. " 01/01/2016 - "The mitochondrial protein frataxin (FXN) is highly expressed in metabolically active tissues and has been shown to improve cell survival in response to oxidative stress after ischemia. " 01/01/2018 - "The aim of this study was to evaluate the effect of frataxin overexpression in Müller cells on neuronal survival after retinal ischemia/reperfusion in the mouse in vivo. "
5.	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 08/01/2005 - "We hypothesized that heterozygous mutations in frataxin may mimic or modify hypertrophic cardiomyopathy. " 08/01/2005 - "Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy." 12/01/2010 - "In the two other patients, hypertrophic cardiomyopathy was a significant feature that has been attributed to moonlighting proteolytic activity of monomeric DLD, which can degrade other mitochondrial proteins, such as frataxin. " 01/01/2001 - "The second example is Friedreich's ataxia in which, within 3 years of the discovery of the pathogenic mechanism, the deficiency in frataxin and its intra-cellular toxic consequences have been demonstrated, leading to a logical medical therapy which proves to be effective in treating (and maybe in preventing) the severe hypertrophic cardiomyopathy associated to this disease." 12/27/2021 - "Friedreich ataxia (FRDA) is a serious hereditary neurodegenerative disease, mostly accompanied with hypertrophic cardiomyopathy, caused by the reduced expression of frataxin (FXN). "

Related Drugs and Biologics

1.	Mitochondrial Proteins (Mitochondrial Protein)
2.	Iron
3.	Sulfur
4.	Biomarkers (Surrogate Marker)
5.	Antioxidants
6.	Messenger RNA (mRNA)
7.	Protein Isoforms (Isoforms)
8.	Oligonucleotides
9.	Antisense Oligonucleotides
10.	Glucagon-Like Peptide-1 Receptor Agonists

Related Therapies and Procedures

1.	Therapeutics
2.	Renal Dialysis (Hemodialysis)
3.	Aftercare (After-Treatment)