(Q43073870)

13 November 2017

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria (English)

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13 November 2017

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4

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13 November 2017

Søren Vang

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Ronald J A Wanders

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object named as

Ronald J A Wanders

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13 November 2017

Christina B Pedersen

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13 November 2017

Zarazuela Zolkipli

2

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13 November 2017

Margrethe Kjeldsen

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13 November 2017

Vibeke Stenbroen

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13 November 2017

Stinne P Schmidt

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13 November 2017

Jos P N Ruiter

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13 November 2017

Flemming Wibrand

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13 November 2017

Ingrid Tein

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13 November 2017

Niels Gregersen

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13 November 2017

5 May 2010

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Journal of Inherited Metabolic Disease

13 November 2017

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13 November 2017

33

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13 November 2017

3

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13 November 2017

211-222

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9086-6

13 November 2017

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cites work

Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

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Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9086-6

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

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12 December 2020

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency

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12 December 2020

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

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12 December 2020

The coactivator PGC-1 cooperates with peroxisome proliferator-activated receptor alpha in transcriptional control of nuclear genes encoding mitochondrial fatty acid oxidation enzymes

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12 December 2020

Mitochondrial fatty acid oxidation defects--remaining challenges.

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12 December 2020

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

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12 December 2020

Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders

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12 December 2020

Mutual dependence of Foxo3a and PGC-1alpha in the induction of oxidative stress genes.

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12 December 2020

Synergistic activation of the human MnSOD promoter by DJ-1 and PGC-1alpha: regulation by SUMOylation and oxidation

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12 December 2020

A convenient one-step extraction of cellular ATP using boiling water for the luciferin-luciferase assay of ATP.

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12 December 2020

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

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12 December 2020

Mitochondrial disease in superoxide dismutase 2 mutant mice

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12 December 2020

The role of oxidative damage in the neuropathology of organic acidurias: insights from animal studies.

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12 December 2020

Overexpression of mitochondrial Hsp70/Hsp75 protects astrocytes against ischemic injury in vitro.

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12 December 2020

Cardiac peroxisome proliferator-activated receptor γ is essential in protecting cardiomyocytes from oxidative damage

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12 December 2020

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

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12 December 2020

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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12 December 2020

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

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12 December 2020

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

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12 December 2020

Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress

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12 December 2020

Down-regulation of manganese-superoxide dismutase through phosphorylation of FOXO3a by Akt in explanted vascular smooth muscle cells from old rats

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12 December 2020

Structural organization of the human short-chain acyl-CoA dehydrogenase gene

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12 December 2020

Invited review: manganese superoxide dismutase in disease

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12 December 2020

Regulation of superoxide dismutase genes: implications in disease

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12 December 2020

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

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12 December 2020

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders

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12 December 2020

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

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12 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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12 December 2020

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

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12 December 2020

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

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12 December 2020

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

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12 December 2020

Mitochondrial inhibition and oxidative stress: reciprocating players in neurodegeneration

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12 December 2020

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

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12 December 2020

Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme

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12 December 2020

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

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12 December 2020

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia

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12 December 2020

ETHE1 mutations are specific to ethylmalonic encephalopathy

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12 December 2020

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency

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12 December 2020

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

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12 December 2020

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

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12 December 2020

Proteomics profiling of hepatic mitochondria in heterozygous Sod2+/- mice, an animal model of discreet mitochondrial oxidative stress

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12 December 2020

Acidosis during reoxygenation has an early detrimental effect on neuronal metabolic activity.

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12 December 2020

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme

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12 December 2020

Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency

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12 December 2020

Riboflavin-responsive defects of beta-oxidation

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12 December 2020

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies

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12 December 2020

10.1007/S10545-010-9086-6

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13 November 2017

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