(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

1 reference

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4 June 2020

Johannes Häberle

14

1 reference

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4 June 2020

Agnès Rötig

16

1 reference

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4 June 2020

Holger Prokisch

20

1 reference

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4 June 2020

Robert William Taylor

17

object named as

Robert W Taylor

1 reference

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4 June 2020

author name string

Manuel Schiff

1

1 reference

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4 June 2020

Birgit Haberberger

2

1 reference

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4 June 2020

Chuanwu Xia

3

1 reference

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4 June 2020

Eric S Goetzman

5

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4 June 2020

Yudong Wang

6

1 reference

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4 June 2020

Radha Uppala

7

1 reference

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4 June 2020

Yuxun Zhang

8

1 reference

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4 June 2020

Anuradha Karunanidhi

9

1 reference

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4 June 2020

Dolly Prabhu

10

1 reference

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4 June 2020

Hana Alharbi

11

1 reference

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4 June 2020

Edward V Prochownik

12

1 reference

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4 June 2020

Tobias Haack

13

1 reference

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4 June 2020

Robert D Nicholls

18

1 reference

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4 June 2020

Jung-Ja Kim

19

1 reference

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4 June 2020

Jerry Vockley

21

1 reference

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4 June 2020

Arnold Munnich

15

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4 June 2020

publication date

26 February 2015

1 reference

20 September 2017

Human Molecular Genetics

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

volume

24

1 reference

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4 June 2020

issue

11

1 reference

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4 June 2020

page(s)

3238-3247

1 reference

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

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

4 June 2020

cites work

1 reference

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SIRT5 regulates the mitochondrial lysine succinylome and metabolic networks

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

22 September 2017

1 reference

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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Mitochondrial disorders as windows into an ancient organelle

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

22 September 2017

1 reference

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Mitochondrial structure, function and dynamics are temporally controlled by c-Myc

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Evidence for Physical Association of Mitochondrial Fatty Acid Oxidation and Oxidative Phosphorylation Complexes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Acyl-CoA dehydrogenases: Dynamic history of protein family evolution

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

HEK293 cell line: a vehicle for the expression of recombinant proteins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Monogenic traits are not simple: lessons from phenylketonuria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Molecular basis of phenotypic heterogeneity in phenylketonuria

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Presence of an acyl carrier protein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Mitochondrial fatty acid oxidation defects--remaining challenges.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424958

Long-Chain Fatty Acid Oxidation during Early Human Development

20 August 2018

1 reference

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

1 reference

Crossref

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

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

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

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

1 reference

12 December 2020

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

PubMed publication ID

25721401

1 reference

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