(Q34317949)

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Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22736457%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22736457%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Friedreich ataxia

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Kathrin Fedosov

7

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6 February 2020

Jörg B. Schulz

8

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6 February 2020

10

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6 February 2020

5

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Susan L Perlman

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6 February 2020

author name string

Alain Martelli

1

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6 February 2020

Lisa S Friedman

2

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6 February 2020

Laurence Reutenauer

3

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6 February 2020

Nadia Messaddeq

4

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6 February 2020

David R Lynch

6

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6 February 2020

Massimo Pandolfo

9

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6 February 2020

publication date

26 June 2012

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Europe PubMed Central

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6 February 2020

Disease Models & Mechanisms

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Europe PubMed Central

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6 February 2020

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22736457%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

6

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6 February 2020

860-869

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6 February 2020

copyright license

Creative Commons Attribution 2.0 Generic

18 May 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Hepatic mitochondrial dysfunction in Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Contributions of new hepatocyte lineages to liver growth, maintenance, and regeneration in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Liver regeneration: alternative epithelial pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Clinical experience with high-dose idebenone in Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

The in vivo mitochondrial two-step maturation of human frataxin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Pathophysiology and fate of hepatocytes in a mouse model of mitochondrial hepatopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Defective DNA repair and neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Frataxin gene point mutations in Italian Friedreich ataxia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Breast cancer in two sisters with Friedreich's ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Oxidative stress in patients with Friedreich ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Primary small bowel ganglioneuroblastoma and Friedreich's ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

6 July 2018

Mortality in Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

28 October 2018

Role of oxidative damage in Friedreich's ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484868

28 October 2018

The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frataxin knockin mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich's ataxia and intrathecal chemotherapy in a patient with lymphoblastic lymphoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased levels of plasma malondialdehyde in Friedreich ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gastric carcinoma in siblings with Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22736457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1242/DMM.009829

1 reference

Europe PubMed Central

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6 February 2020

PMC publication ID

1 reference

Europe PubMed Central

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6 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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6 February 2020

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