Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies (Q28085600)

lipid metabolism disorder

main subject

1 reference

19 November 2019

mitochondrial disease

1 reference

19 November 2019

1 reference

12 October 2019

1 reference

19 November 2019

M. Wajner

1

1 reference

Crossref

A. U. Amaral

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

20 November 2015

4 references

24 March 2019

12 October 2019

19 November 2019

4 references

24 March 2019

12 October 2019

19 November 2019

36

1 reference

issue

1

1 reference

page(s)

e00281

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Creative Commons Attribution 3.0 Unported

copyright license

3 references

Europe PubMed Central

24 March 2019

Europe PubMed Central

12 October 2019

Europe PubMed Central

on focus list of Wikimedia project

19 November 2019

copyright status

copyrighted

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ScienceSource

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cites work

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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

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Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha

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Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation

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Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency

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Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts

29 September 2017

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Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice

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Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial

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Muscle MRI in patients with long-chain fatty acid oxidation disorders

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Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes

29 September 2017

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Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?

29 September 2017

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Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies?

29 September 2017

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Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

29 September 2017

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Disorders of fatty acid oxidation

29 September 2017

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Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

29 September 2017

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Pathophysiology of fatty acid oxidation disorders

29 September 2017

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Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models

29 September 2017

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Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

29 September 2017

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Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

29 September 2017

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Mitochondrial dynamics, cell death and the pathogenesis of Parkinson's disease

29 September 2017

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An overview of beta-oxidation disorders.

29 September 2017

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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

29 September 2017

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Mitochondria and reactive oxygen species

29 September 2017

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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

29 September 2017

1 reference

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Mitochondrial fatty-acid oxidation disorders

29 September 2017

1 reference

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Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse

29 September 2017

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29 September 2017

Mitochondrial disease

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Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults

29 September 2017

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Formation of palmitic acid/Ca2+ complexes in the mitochondrial membrane: a possible role in the cyclosporin-insensitive permeability transition

29 September 2017

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MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

29 September 2017

1 reference

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Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

29 September 2017

1 reference

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Fatty acid oxidation disorders

29 September 2017

1 reference

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Defects of mitochondrial beta-oxidation: a growing group of disorders.

29 September 2017

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Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

29 September 2017

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Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

29 September 2017

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Mitochondrial dysfunction in the pathogenesis of necrotic and apoptotic cell death

29 September 2017

1 reference

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Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

29 September 2017

1 reference

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Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation

29 September 2017

1 reference

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The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

29 September 2017

1 reference

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Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

29 September 2017

1 reference

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Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome

29 September 2017

1 reference

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Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria

29 September 2017

1 reference

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Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Resveratrol enhances fatty acid oxidation capacity and reduces resistin and Retinol-Binding Protein 4 expression in white adipocytes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Palmitic acid opens a novel cyclosporin A-insensitive pore in the inner mitochondrial membrane

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls

2 June 2018

1 reference

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Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

2 June 2018

1 reference

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Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.

2 June 2018

1 reference

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Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

2 June 2018

1 reference

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Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Action of long-chain fatty acids in vitro on Ca2+-stimulatable, Mg2+-dependent ATPase activity in human red cell membranes

2 June 2018

1 reference

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Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

2 June 2018

1 reference

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Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Binding of unsaturated fatty acids to Na+, K(+)-ATPase leading to inhibition and inactivation

2 June 2018

1 reference

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L-Carnitine prevents mitochondrial damage induced by octanoic acid in the rat choroid plexus.

2 June 2018

1 reference

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An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency

2 June 2018

1 reference

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Short-chain organic acidemia and Reye's syndrome

2 June 2018

1 reference

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Biochemical correlates of illness and recovery in Reye's syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Toxicity of octanoate and decanoate in rat peripheral tissues: evidence of bioenergetic dysfunction and oxidative damage induction in liver and skeletal muscle

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Disturbance of mitochondrial energy homeostasis caused by the metabolites accumulating in LCHAD and MTP deficiencies in rat brain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies induce oxidative stress in rat brain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Destabilization of the cytosolic calcium level and cardiomyocyte death in the presence of long-chain fatty acid derivatives

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Homozygous carnitine palmitoyltransferase 1a (liver isoform) deficiency is lethal in the mouse

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Neonatal screening for defects of the mitochondrial trifunctional protein

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Inhibition of energy metabolism in cerebral cortex of young rats by the medium-chain fatty acids accumulating in MCAD deficiency

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Evidence that antioxidants prevent the inhibition of Na+,K(+)-ATPase activity induced by octanoic acid in rat cerebral cortex in vitro.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Effects of octanoate on rat brain and liver mitochondria.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718505

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

27 November 2018

1 reference

12 December 2020

Regional Cerebral Na+K+ ATPase Activity following Octanoate Administration

1 reference

12 December 2020

Octanoic acid inhibits astrocyte volume control: implications for cerebral edema in Reye's syndrome

1 reference

12 December 2020

Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid β-oxidation disorders

1 reference

12 December 2020

Cellular uncoupling induced by accumulation of long-chain acylcarnitine during ischemia

1 reference

12 December 2020

On octanoic acid-induced hyperventilation--implications for hepatic encephalopathy and Reye's syndrome

1 reference

12 December 2020

Lactic acidosis in long-chain fatty acid beta-oxidation disorders

1 reference

12 December 2020

The calorigenic nature of hepatic ketogenesis: an explanation for the stimulation of respiration induced by fatty acid substrates

1 reference

12 December 2020

Long-chain acylcarnitine induces Ca2+ efflux from the sarcoplasmic reticulum

1 reference

12 December 2020

Cytochrome C oxidase deficiency and Long‐Chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy

1 reference

12 December 2020

No effect of bezafibrate in patients with CPTII and VLCAD deficiencies

1 reference

12 December 2020

Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation

1 reference

12 December 2020

Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation

1 reference

12 December 2020

Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acidβ-oxidation intermediates on mitochondrial oxidative phosphorylation

1 reference

12 December 2020

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

1 reference

12 December 2020