(Q46330583)

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15 January 2020

title

Mitochondrial fatty acid oxidation defects--remaining challenges (English)

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15 January 2020

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Brage Storstein Andresen

2

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15 January 2020

Thomas Juhl Corydon

5

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15 January 2020

Rikke K. Olsen

4

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15 January 2020

Peter Bross

6

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15 January 2020

author name string

Niels Gregersen

1

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15 January 2020

Christina B Pedersen

3

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15 January 2020

publication date

7 October 2008

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Journal of Inherited Metabolic Disease

15 January 2020

published in

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15 January 2020

volume

31

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15 January 2020

issue

5

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15 January 2020

page(s)

643-657

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https://scigraph.springernature.com/pub.10.1007/s10545-008-0990-y

15 January 2020

exact match

0 references

cites work

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12 December 2020

Combined enzyme defect of mitochondrial fatty acid oxidation

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Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

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Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

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12 December 2020

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

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12 December 2020

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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

Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.

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12 December 2020

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

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12 December 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

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12 December 2020

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

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12 December 2020

Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool

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12 December 2020

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

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12 December 2020

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

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12 December 2020

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

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12 December 2020

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

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12 December 2020

C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects

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12 December 2020

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

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12 December 2020

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

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12 December 2020

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

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12 December 2020

Protein misfolding disorders: pathogenesis and intervention

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12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

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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

Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria

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12 December 2020

The nonsense-mediated decay RNA surveillance pathway

1 reference

12 December 2020

Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation

1 reference

12 December 2020

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

1 reference

12 December 2020

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

1 reference

12 December 2020

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

1 reference

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

1 reference

12 December 2020

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient

1 reference

12 December 2020

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

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

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12 December 2020

Effect of riboflavin status on the homocysteine-lowering effect of folate in relation to the MTHFR (C677T) genotype

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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

Electron transfer flavoprotein deficiency: functional and molecular aspects

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12 December 2020

Two families of chaperonin: physiology and mechanism

1 reference

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

1 reference

12 December 2020

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer

1 reference

12 December 2020

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.

1 reference

12 December 2020

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome

1 reference

12 December 2020

Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation

1 reference

12 December 2020

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

1 reference

12 December 2020

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

1 reference

12 December 2020

Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins

1 reference

12 December 2020

Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme

1 reference

12 December 2020

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

1 reference

12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

1 reference

12 December 2020

Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts

1 reference

12 December 2020

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

1 reference

12 December 2020

FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation

1 reference

12 December 2020

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

1 reference

12 December 2020

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

1 reference

12 December 2020

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

1 reference

12 December 2020

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

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

1 reference

12 December 2020

The occurrence of adipic and suberic acid in urine from ketotic patients

1 reference

12 December 2020

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships

1 reference

12 December 2020

A defect in the transport of long-chain fatty acids associated with acute liver failure

1 reference

12 December 2020

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

1 reference

12 December 2020

Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

1 reference

12 December 2020

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

1 reference

12 December 2020

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

12 December 2020

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

12 December 2020

Riboflavin-responsive defects of beta-oxidation

1 reference

12 December 2020

Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

1 reference

12 December 2020

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

12 December 2020

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

1 reference

12 December 2020

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

1 reference

12 December 2020

Protein misfolding and human disease

1 reference

12 December 2020

10.1007/S10545-008-0990-Y

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18836889%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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