Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia (Q47134420)

http://europepmc.org/abstract/PMC/5736353

9 January 2018

title

Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia (English)

1 reference

http://europepmc.org/abstract/PMC/5736353

9 January 2018

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

Daniel Geschwind

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Kun Gao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

Vivek Swarup

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

Revital Versano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

Hongmei Dong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

Maria C Jordan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

0 references

publication date

19 December 2017

1 reference

http://europepmc.org/abstract/PMC/5736353

9 January 2018

published in

eLife

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

describes a project that uses

13 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5736353/fullTextXML

inferred from PubMed Central ID database lookup

limma

object named as

LIMMA

2 references

22 June 2022

https://europepmc.org/article/PMC/5736353

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

WGCNA

object named as

WGCNA

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

CellProfiler

object named as

CellProfiler

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

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Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.

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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

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Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

23 May 2018

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Marked variation in the cardiomyopathy associated with Friedreich's ataxia

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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

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Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

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

23 May 2018

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

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23 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death--inducing signaling complex

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Myocardial fibrosis and stiffness with hypertrophy and heart failure in the spontaneously hypertensive rat

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Long QT: Good, bad or indifferent?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Functional assessment of neurologic impairment: track analysis in diabetic and compression neuropathies.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Genetic and family studies in Friedreich's ataxia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Galectin-3 in Patients with Acute Heart Failure: Preliminary Report on First Polish Experience.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Nkx2-5 suppresses the proliferation of atrial myocytes and conduction system

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Analysis of the visual system in Friedreich ataxia

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Unregulated brain iron deposition in transgenic mice over-expressing HMOX1 in the astrocytic compartment.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Characterizing POLG ataxia: clinics, electrophysiology and imaging

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Mortality in Friedreich ataxia

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Life and death partners: apoptosis, autophagy and the cross-talk between them

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Friedreich ataxia: the oxidative stress paradox

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Glutathione in blood of patients with Friedreich's ataxia.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Transthoracic echocardiography in models of cardiac disease in the mouse.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736353

15 August 2018

Frataxin knockin mouse

1 reference

Crossref

https://api.crossref.org/works/10.7554/ELIFE.30054

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.7554/ELIFE.30054

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

21 January 2018

1 reference

12 December 2020

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia

1 reference

12 December 2020

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

12 December 2020

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased levels of plasma malondialdehyde in Friedreich ataxia

1 reference

12 December 2020

Chemokine receptors in the central nervous system: role in brain inflammation and neurodegenerative diseases

1 reference

12 December 2020

Motor coordination and balance in rodents

1 reference

12 December 2020

Fibrosis in endstage human heart failure: severe changes in collagen metabolism and MMP/TIMP profiles

1 reference

12 December 2020

POLG, but notPEO1, is a frequent cause of cerebellar ataxia in Central Europe

1 reference

12 December 2020

Detection of Apoptosis by TUNEL Assay

1 reference

12 December 2020

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

1 reference

12 December 2020

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

1 reference

12 December 2020

Identifiers

DOI

10.7554/ELIFE.30054

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29257745 AND SRC:MED&resulttype=core&format=json

13 June 2020

PubMed publication ID

29257745

1 reference