Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia (Q28488251)

2

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Matthew Belmonte

3

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Elizabeth Egan

4

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David R Lynch

5

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James R Rusche

Creative Commons Attribution 4.0 International

6

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language of work or name

English

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publication date

2013

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published in

PLOS One

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volume

8

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issue

5

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page(s)

e63958

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copyright license

start time

17 May 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model

19 March 2017

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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

19 March 2017

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Friedreich ataxia: an overview

19 March 2017

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Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

19 March 2017

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Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo

19 March 2017

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

19 March 2017

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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

19 March 2017

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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

19 March 2017

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

19 March 2017

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

19 March 2017

1 reference

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Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

19 March 2017

1 reference

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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

19 March 2017

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Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

29 September 2017

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

29 September 2017

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A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels

29 September 2017

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Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

29 September 2017

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Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers

29 September 2017

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Iron dysregulation in Friedreich ataxia

29 September 2017

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Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

29 September 2017

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Friedreich's ataxia: clinical aspects and pathogenesis

29 September 2017

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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

29 September 2017

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Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.

2 June 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0063958

Measuring Friedreich ataxia: complementary features of examination and performance measures

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0063958

Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0063958

Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia – a Dose–Response Trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0063958

Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0063958

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

21 January 2018

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12 December 2020

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin

1 reference

12 December 2020

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit

1 reference

12 December 2020

Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial

1 reference

12 December 2020