(Q34103418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author

Jean-François Benoist

5

1 reference

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18 January 2020

author name string

Manuel Schiff

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Paule Bénit

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Riyad El-Khoury

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Dimitri Schlemmer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Pierre Rustin

6

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

13 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

6

1 reference

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18 January 2020

issue

12

1 reference

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18 January 2020

page(s)

e28823

1 reference

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Creative Commons Attribution 4.0 International

18 January 2020

copyright license

start time

13 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Therapy for mitochondrial disorders: little proof, high research activity, some promise

5 July 2018

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Mitochondrial response to controlled nutrition in health and disease

5 July 2018

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Identification and characterization of new long chain acyl-CoA dehydrogenases

5 July 2018

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5 July 2018

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A neurological perspective on mitochondrial disease.

5 July 2018

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A simple composite phenotype scoring system for evaluating mouse models of cerebellar ataxia.

5 July 2018

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Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

5 July 2018

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5 July 2018

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Tests to assess motor phenotype in mice: a user's guide

5 July 2018

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The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes

5 July 2018

1 reference

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High-fat diets cause insulin resistance despite an increase in muscle mitochondria

5 July 2018

1 reference

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Glycerophospholipid identification and quantitation by electrospray ionization mass spectrometry

5 July 2018

1 reference

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A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236768

Raising plasma fatty acid concentration induces increased biogenesis of mitochondria in skeletal muscle.

5 July 2018

1 reference

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Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy

5 July 2018

1 reference

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Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

5 July 2018

1 reference

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AIF deficiency compromises oxidative phosphorylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236768

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236768

The harlequin mouse mutation downregulates apoptosis-inducing factor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236768

Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency

5 July 2018

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Clinical spectrum and diagnosis of mitochondrial disorders

5 July 2018

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Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

5 July 2018

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Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice

5 July 2018

1 reference

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Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

5 July 2018

1 reference

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Molecular recognition of fatty acids by peroxisome proliferator-activated receptors

5 July 2018

1 reference

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

5 July 2018

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Fatty acids and eicosanoids regulate gene expression through direct interactions with peroxisome proliferator-activated receptors alpha and gamma

5 July 2018

1 reference

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Hydrogen peroxide-induced renal injury. A protective role for pyruvate in vitro and in vivo

5 July 2018

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Differential effects of short- and long-term high-fat diet feeding on hepatic fatty acid metabolism in rats.

5 July 2018

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Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases

21 January 2018

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Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes

21 January 2018

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Ketogenic diet slows down mitochondrial myopathy progression in mice

21 January 2018

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Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.

21 January 2018

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Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

21 January 2018

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Enhanced lipid-but not carbohydrate-supported mitochondrial respiration in skeletal muscle of PGC-1α overexpressing mice

28 October 2018

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Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex I deficiency.

28 October 2018

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28 October 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028823

Biochemical and molecular investigations in respiratory chain deficiencies

21 January 2018

1 reference

12 December 2020

Downregulation of Apoptosis-Inducing Factor in Harlequin Mutant Mice Sensitizes the Myocardium to Oxidative Stress–Related Cell Death and Pressure Overload–Induced Decompensation

1 reference

12 December 2020

Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples

1 reference

12 December 2020

Fatty acids decrease mitochondrial generation of reactive oxygen species at the reverse electron transport but increase it at the forward transport

1 reference

12 December 2020

Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0028823

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174907%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

22174907

1 reference