Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. (Q40453601)

20 September 2017

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. (English)

1 reference

20 September 2017

0 references

4

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4 June 2020

Johannes Häberle

14

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4 June 2020

Agnès Rötig

16

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Holger Prokisch

20

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4 June 2020

Robert William Taylor

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object named as

Robert W Taylor

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4 June 2020

author name string

Manuel Schiff

1

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4 June 2020

Birgit Haberberger

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4 June 2020

Chuanwu Xia

3

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4 June 2020

Eric S Goetzman

5

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Yudong Wang

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Radha Uppala

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4 June 2020

Yuxun Zhang

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Anuradha Karunanidhi

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Dolly Prabhu

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Hana Alharbi

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4 June 2020

Edward V Prochownik

12

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4 June 2020

Tobias Haack

13

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4 June 2020

Robert D Nicholls

18

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4 June 2020

Jung-Ja Kim

19

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Jerry Vockley

21

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Arnold Munnich

15

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4 June 2020

publication date

26 February 2015

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20 September 2017

Human Molecular Genetics

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4 June 2020

volume

24

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4 June 2020

page(s)

3238-3247

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4 June 2020

issue

11

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Overexpression of mitochondrial sirtuins alters glycolysis and mitochondrial function in HEK293 cells

4 June 2020

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22 September 2017

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ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

22 September 2017

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Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

22 September 2017

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22 September 2017

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

22 September 2017

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Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

22 September 2017

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

22 September 2017

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Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes

22 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

22 September 2017

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A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

22 September 2017

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Acyl-CoA dehydrogenases: Dynamic history of protein family evolution

22 September 2017

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22 September 2017

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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

22 September 2017

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Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase

22 September 2017

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

22 September 2017

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

22 September 2017

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22 September 2017

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

22 September 2017

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22 September 2017

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22 September 2017

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25 September 2017

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17 June 2018

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17 June 2018

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17 June 2018

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

20 August 2018

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

20 August 2018

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20 August 2018

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Long-Chain Fatty Acid Oxidation during Early Human Development

20 August 2018

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Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV074

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

21 January 2018

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12 December 2020

High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli

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Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy

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An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

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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

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Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane

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Identifiers

DOI

10.1093/HMG/DDV074

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721401%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721401%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721401%20AND%20SRC:MED&resulttype=core&format=json