(Q38106893)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

0 references

1 reference

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Simon E Olpin

series ordinal

1

1 reference

29 August 2017

publication date

15 May 2013

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 March 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

645-658

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674167%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-013-9611-5

1 March 2020

exact match

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Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

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Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells

21 January 2018

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Nutrient-dependent acetylation controls basic regulatory metabolic switches and cellular reprogramming

21 January 2018

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Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids

21 January 2018

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Intramuscular substrate utilization during prolonged exercise

21 January 2018

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Utilization of blood-borne and intramuscular substrates during continuous and intermittent exercise in man.

21 January 2018

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Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex

21 January 2018

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

21 January 2018

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Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.

21 January 2018

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Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant

21 January 2018

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Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

21 January 2018

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Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

21 January 2018

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The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

21 January 2018

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Protein misfolding and cellular stress: an overview

21 January 2018

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Mitochondrial fatty acid oxidation defects--remaining challenges.

21 January 2018

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Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family

21 January 2018

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Identification and characterization of new long chain acyl-CoA dehydrogenases

21 January 2018

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A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling

21 January 2018

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A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

21 January 2018

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Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

21 January 2018

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Liver disease in pregnancy and fetal fatty acid oxidation defects

21 January 2018

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Octanoic acid produces accumulation of monoamine acidic metabolites in the brain: interaction with organic anion transport at the choroid plexus

21 January 2018

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Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children

21 January 2018

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beta-oxidation of fatty acids in mitochondria, peroxisomes, and bacteria: a century of continued progress

21 January 2018

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Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro.

21 January 2018

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Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase

21 January 2018

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Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies

21 January 2018

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21 January 2018

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Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity

21 January 2018

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Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain

21 January 2018

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Features of carnitine palmitoyltransferase type I deficiency

21 January 2018

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21 January 2018

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

21 January 2018

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21 January 2018

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

21 January 2018

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21 January 2018

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Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

21 January 2018

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The human metabolic response to chronic ketosis without caloric restriction: physical and biochemical adaptation.

21 January 2018

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A novel brain-expressed protein related to carnitine palmitoyltransferase I

21 January 2018

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Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

21 January 2018

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Surfactant palmitoylmyristoylphosphatidylcholine is a marker for alveolar size during disease

21 January 2018

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Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

21 January 2018

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Fatty acid oxidation disorders

21 January 2018

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Metabolic adaptations through the PGC-1 alpha and SIRT1 pathways

21 January 2018

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Genotype-phenotype correlation in primary carnitine deficiency

21 January 2018

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Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models

21 January 2018

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Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

21 January 2018

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Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations

21 January 2018

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Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

21 January 2018

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General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

21 January 2018

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Regulation of skeletal muscle fat oxidation during exercise in humans

21 January 2018

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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

21 January 2018

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Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

21 January 2018

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Carnitine transport: pathophysiology and metabolism of known molecular defects

21 January 2018

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

21 January 2018

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Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts

21 January 2018

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

21 January 2018

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Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

21 January 2018

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Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

21 January 2018

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Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects.

21 January 2018

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Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

21 January 2018

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Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

21 January 2018

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Heterozygosity: an expanding role in proteomics

21 January 2018

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A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

21 January 2018

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Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency

21 January 2018

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

21 January 2018

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Disorders of mitochondrial fatty acyl-CoA beta-oxidation

21 January 2018

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The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

21 January 2018

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Regulation of 5'AMP-activated protein kinase activity and substrate utilization in exercising human skeletal muscle

21 January 2018

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Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy

21 January 2018

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Long-Chain Fatty Acid Oxidation during Early Human Development

21 January 2018

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Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

21 January 2018

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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

21 January 2018

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12 December 2020

Selected metabolic alterations in the ischemic heart and their contributions to arrhythmogenesis

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12 December 2020

A metabolic role for mitochondria in palmitate-induced cardiac myocyte apoptosis

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12 December 2020

Cardiac hypertrophy, substrate utilization and metabolic remodelling: cause or effect?

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12 December 2020

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

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12 December 2020

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

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12 December 2020

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect

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12 December 2020

Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A β-oxidation intermediates

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12 December 2020

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

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12 December 2020

Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation

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12 December 2020

Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

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12 December 2020

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

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12 December 2020

Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts

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12 December 2020

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

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12 December 2020

Disease mechanisms and protein structures in fatty acid oxidation defects

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12 December 2020

Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium

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12 December 2020

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

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12 December 2020

Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

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12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

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12 December 2020

Potentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles

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12 December 2020

Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. The minor component is identical to the liver enzyme

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12 December 2020

Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil

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12 December 2020

Novel mutations associated with carnitine palmitoyltransferase II deficiency

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12 December 2020

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

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12 December 2020