Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. (Q30380362)

30 September 2017

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. (English)

1 reference

30 September 2017

1 reference

11

Annie Laquerrière

0 references

Laurence Menu-Bouaouiche

object named as

Laurence Menu-Bouaouiche

5

0 references

Jennifer Lagoutte-Renosi

1

object named as

Jennifer Lagoutte-Renosi

1 reference

30 September 2017

Isabelle Ségalas-Milazzo

2

1 reference

30 September 2017

Marie Crahes

3

1 reference

30 September 2017

Florian Renosi

4

1 reference

30 September 2017

Stéphanie Torre

6

1 reference

30 September 2017

Caroline Lardennois

7

1 reference

30 September 2017

Marlène Rio

8

1 reference

30 September 2017

Stéphane Marret

9

1 reference

30 September 2017

Carole Brasse-Lagnel

10

1 reference

30 September 2017

Soumeya Bekri

12

1 reference

30 September 2017

17 October 2015

1 reference

Journal of Inherited Metabolic Disorders Reports

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Deciphering key features in protein structures with the new ENDscript server

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Understanding mitochondrial complex I assembly in health and disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

The architecture of respiratory complex I

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

MolProbity: all-atom structure validation for macromolecular crystallography

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Acyl-CoA dehydrogenases: Dynamic history of protein family evolution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Protein structure prediction on the Web: a case study using the Phyre server

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

MolProbity: all-atom contacts and structure validation for proteins and nucleic acids

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Regulation of cardiac energy metabolism in newborn

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5059192

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

20 June 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2015_499

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2015_499

Long-Chain Fatty Acid Oxidation during Early Human Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2015_499

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2015_499

Biochemical and molecular investigations in respiratory chain deficiencies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26475292

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2015_499

0 references

1 reference

30 September 2017

1 reference