(Q37223281)

English

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia

scientific article published on 17 April 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Friedreich ataxia

1 reference

based on heuristic

inferred from title

functional genomics

1 reference

based on heuristic

inferred from title

Fabio Acquaviva

object named as

Fabio Acquaviva

7

0 references

object named as

Miriam Cnop

5

0 references

Daniel Geschwind

10

object named as

Daniel H Geschwind

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Giovanni Coppola

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Daniele Marmolino

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Daning Lu

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Qing Wang

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Myriam Rai

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Sergio Cocozza

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Massimo Pandolfo

9

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

publication date

17 April 2009

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

18

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

13

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

2452-2461

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PGC-1alpha is coupled to HIF-1alpha-dependent gene expression by increasing mitochondrial oxygen consumption in skeletal muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

The Ca2+ ATPase of cardiac sarcoplasmic reticulum: Physiological role and relevance to diseases

1 reference

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6 September 2017

Regulation of sterol synthesis in eukaryotes.

1 reference

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6 September 2017

The role of skeletal muscle insulin resistance in the pathogenesis of the metabolic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Disordered lipid metabolism and the pathogenesis of insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Insulin-resistant heart exhibits a mitochondrial biogenic response driven by the peroxisome proliferator-activated receptor-alpha/PGC-1alpha gene regulatory pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

PGC-1alpha: a key regulator of energy metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Peroxisome proliferator-activated receptor gamma coactivator 1 coactivators, energy homeostasis, and metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Etiology of insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

PGC-1 coactivators: inducible regulators of energy metabolism in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

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=2694693

6 September 2017

Metabolic control through the PGC-1 family of transcription coactivators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

PGC-1alpha deficiency causes multi-system energy metabolic derangements: muscle dysfunction, abnormal weight control and hepatic steatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Mitochondrial dysfunction and type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Serum adiponectin as a biomarker for in vivo PPARgamma activation and PPARgamma agonist-induced efficacy on insulin sensitization/lipid lowering in rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Central role of suppressors of cytokine signaling proteins in hepatic steatosis, insulin resistance, and the metabolic syndrome in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Neurodegenerative disorders associated with diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

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=2694693

6 September 2017

Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Dysfunction of mitochondria in human skeletal muscle in type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Transcriptional co-activator PGC-1 alpha drives the formation of slow-twitch muscle fibres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

The cardiac phenotype induced by PPARalpha overexpression mimics that caused by diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

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=2694693

6 September 2017

Peroxisome proliferator-activated receptor gamma coactivator-1 promotes cardiac mitochondrial biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

Deficit of in vivo mitochondrial ATP production 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=2694693

6 September 2017

Clinical and genetic abnormalities in patients 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=2694693

6 September 2017

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=2694693

6 September 2017

Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

6 September 2017

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

14 September 2017

Metalloproteinase expression in PMA-stimulated THP-1 cells. Effects of peroxisome proliferator-activated receptor-gamma (PPAR gamma) agonists and 9-cis-retinoic acid.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

14 September 2017

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=2694693

14 September 2017

Oxidized alkyl phospholipids are specific, high affinity peroxisome proliferator-activated receptor gamma ligands and agonists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

28 September 2017

Effects of pioglitazone on suppressor of cytokine signaling 3 expression: potential mechanisms for its effects on insulin sensitivity and adiponectin expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

26 June 2018

Glucose intolerance in Friedreich's ataxia: association with insulin resistance and decreased insulin binding.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

26 June 2018

Glucose metabolism alterations 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=2694693

26 June 2018

Glucose intolerance in first-degree relatives of patients with Friedreich's ataxia is associated with insulin resistance: Evidence for a closely linked inherited trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

26 June 2018

Glucose and insulin metabolism 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=2694693

26 June 2018

Expression of SERCA isoform with faster Ca2+ transport properties improves postischemic cardiac function and Ca2+ handling and decreases myocardial infarction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Progressive loss of beta-cell function leads to worsening glucose tolerance in first-degree relatives of subjects with type 2 diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Measuring Friedreich ataxia: complementary features of examination and performance measures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Friedreich ataxia: the oxidative stress paradox

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Suppressor of cytokine signaling 3 expression and insulin resistance in skeletal muscle of obese and type 2 diabetic patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Cardiac-specific induction of the transcriptional coactivator peroxisome proliferator-activated receptor gamma coactivator-1alpha promotes mitochondrial biogenesis and reversible cardiomyopathy in a developmental stage-dependent manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Defective intracellular Ca(2+) signaling contributes to cardiomyopathy in Type 1 diabetic rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Quantification of the relationship between insulin sensitivity and beta-cell function in human subjects. Evidence for a hyperbolic function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694693

3 September 2018

Frataxin knockin mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP183

21 January 2018

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19376812

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of an increased number of type IIb muscle fibers in insulin-resistant first-degree relatives of patients with NIDDM

1 reference

https://pubmed.ncbi.nlm.nih.gov/19376812

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich's ataxia and oral glucose tolerance: I. The effect of ingested glucose on serum glucose and insulin values in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19376812

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skeletal muscle NAD+(P) and NADP+-dependent malic enzyme in Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19376812

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preclinical and manifest diabetes mellitus in young patients with Friedreich's ataxia: no evidence of immune process behind the islet cell destruction

1 reference

https://pubmed.ncbi.nlm.nih.gov/19376812

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19376812

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDP183

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

release_4t4h55233bg7tk256z4ekdsmmq

1 reference

https://api.fatcat.wiki/v0/release/4t4h55233bg7tk256z4ekdsmmq

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

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