Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders"
DOI: 10.1002/mds.27604
Abstract: Friedreich's ataxia is an autosomal‐recessive cerebellar ataxia caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress. Currently, no treatment is available for Friedreich's ataxia patients. Given that… read more here.
Keywords: drug repositioning; friedreich ataxia; frataxin; ataxia ... See more keywords
Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations
Sign Up to like & getrecommendations! Published in 2022 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-021-04100-5
Abstract: Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression.… read more here.
Keywords: friedreich ataxia; decreased frataxin; point mutation; mutation ... See more keywords
Assessment of cell-free levels of iron and copper in patients with Friedreich’s ataxia
Sign Up to like & getrecommendations! Published in 2019 at "BioMetals"
DOI: 10.1007/s10534-019-00186-4
Abstract: Friedreich’s ataxia (FRDA), a progressive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in frataxin (fxn) gene which results in decreased levels of frataxin protein. Insufficient frataxin levels leads to iron and copper deposits in… read more here.
Keywords: iron copper; friedreich ataxia; frataxin; copper ... See more keywords
Treatment of Dilated Cardiomyopathy in a Mouse Model of Friedreich's Ataxia using N-acetylcysteine and Identification of Alterations in MicroRNA Expression that Could be Involved in its Pathogenesis.
Sign Up to like & getrecommendations! Published in 2020 at "Pharmacological research"
DOI: 10.1016/j.phrs.2020.104994
Abstract: Deficient expression of the mitochondrial protein, frataxin, leads to a deadly cardiomyopathy. Our laboratory reported the master regulator of oxidative stress, nuclear factor erythroid 2-related factor-2 (Nrf2), demonstrates marked down-regulation after frataxin deletion in the… read more here.
Keywords: frataxin; mouse model; expression; keap1 ... See more keywords
Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase
Sign Up to like & getrecommendations! Published in 2020 at "Redox Biology"
DOI: 10.1016/j.redox.2020.101520
Abstract: Friedreich ataxia (FA) is a cardioneurodegenerative disease caused by deficient frataxin expression. This mitochondrial protein has been related to iron homeostasis, energy metabolism, and oxidative stress. Previously, we set up a cardiac cellular model of… read more here.
Keywords: dehydrogenase; frataxin deficient; deficient nrvms; frataxin ... See more keywords
Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia.
Sign Up to like & getrecommendations! Published in 2020 at "Biomaterials science"
DOI: 10.1039/c9bm01757g
Abstract: Increasing frataxin protein levels through gene therapy is envisaged to improve therapeutic outcomes for patients with Friedreich's ataxia (FRDA). A non-viral strategy that uses submicrometer-sized multilayered particles to deliver frataxin-encoding plasmid DNA affords up to… read more here.
Keywords: particle mediated; mediated delivery; friedreich ataxia; frataxin ... See more keywords
Overexpression of Drosophila frataxin triggers cell death in an iron-dependent manner
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2017.1363200
Abstract: Abstract Friedreich ataxia (FRDA) is the most important autosomal recessive ataxia in the Caucasian population. FRDA patients display severe neurological and cardiac symptoms that reflect a strong cellular and axonal degeneration. FRDA is caused by… read more here.
Keywords: overexpression; frataxin; cell death; drosophila frataxin ... See more keywords
Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice
Sign Up to like & getrecommendations! Published in 2022 at "RNA Biology"
DOI: 10.1080/15476286.2022.2043650
Abstract: ABSTRACT 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 expression… read more here.
Keywords: frataxin expression; expression; expression cell; frataxin ... See more keywords
SAXS and stability studies of iron-induced oligomers of bacterial frataxin CyaY
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0184961
Abstract: Frataxin is a highly conserved protein found in both prokaryotes and eukaryotes. It is involved in several central functions in cells, which include iron delivery to biochemical processes, such as heme synthesis, assembly of iron-sulfur… read more here.
Keywords: frataxin cyay; frataxin; saxs; iron ... See more keywords
A promising mouse model for Friedreich Ataxia progressing like human patients
Sign Up to like & getrecommendations! Published in 2022 at "Behavioural Brain Research"
DOI: 10.2139/ssrn.4004718
Abstract: Friedreich Ataxia (FRDA) is a genetic disease caused by an expended GAA repeat in the FXN gene leading to a reduction in frataxin protein production. Frataxin is an essential protein involved in mitochondrial iron-sulfur-cluster formation,… read more here.
Keywords: promising mouse; mouse; friedreich ataxia; frataxin ... See more keywords
Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.874768
Abstract: Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1.… read more here.
Keywords: mature frataxin; isoform; healthy controls; whole blood ... See more keywords