Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients (Q28114930)

fatty acid beta-oxidation using acyl-CoA dehydrogenase

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

T. Aoyama

1

1 reference

3 January 2017

M. Souri

2

1 reference

3 January 2017

I. Ueno

3

1 reference

3 January 2017

T. Kamijo

4

1 reference

3 January 2017

S. Yamaguchi

5

1 reference

3 January 2017

W. J. Rhead

6

1 reference

3 January 2017

K. Tanaka

7

1 reference

3 January 2017

T. Hashimoto

American Journal of Human Genetics

8

1 reference

3 January 2017

language of work or name

English

0 references

publication date

1 August 1995

1 reference

3 January 2017

1 reference

3 January 2017

57

1 reference

3 January 2017

2

1 reference

3 January 2017

273–283

1 reference

3 January 2017

DNA sequencing with chain-terminating inhibitors

1 reference

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Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

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1 reference

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A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

20 March 2017

1 reference

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Cytochrome P-450 hPCN3, a novel cytochrome P-450 IIIA gene product that is differentially expressed in adult human liver. cDNA and deduced amino acid sequence and distinct specificities of cDNA-expressed hPCN1 and hPCN3 for the metabolism of [...]

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Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency

20 March 2017

1 reference

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Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

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1 reference

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Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes

20 March 2017

1 reference

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Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of [...]

20 March 2017

1 reference

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Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase fami

20 March 2017

1 reference

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Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase

20 March 2017

1 reference

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Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene

20 March 2017

1 reference

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How mitochondria import proteins

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1 reference

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Structure of the medium-chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution

29 September 2017

1 reference

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

29 September 2017

1 reference

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Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

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Inborn errors of fatty acid oxidation in man.

29 September 2017

1 reference

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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

29 September 2017

1 reference

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Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency

29 September 2017

1 reference

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Fatty acid oxidation disorders: A new class of metabolic diseases

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1 reference

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Molecular basis of mitochondrial fatty acid oxidation defects

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1 reference

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A sensitive assay of acyl-coenzyme A oxidase by coupling with beta-oxidation multienzyme complex

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1 reference

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Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

2 June 2018

1 reference

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cDNA-directed expression of rat testosterone 7 alpha-hydroxylase using the modified vaccinia virus, T7-RNA-polymerase system and evidence for 6 alpha-hydroxylation and delta 6-testosterone formation

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Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2.

2 June 2018

1 reference

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Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency

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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

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

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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

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Peroxisomal acyl-coenzyme A oxidase is a rate-limiting enzyme in a very-long-chain fatty acid beta-oxidation system

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Purification and Properties of Rat Liver Acyl-CoA Dehydrogenases and Electron Transfer Flavoprotein1

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