(Q38160971)

30 August 2017

Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects? (English)

1 reference

30 August 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Nanna Cornelius

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Niels Gregersen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

12 October 2013

1 reference

Molecular Genetics and Metabolism

30 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

110 Suppl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

S31-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

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

5 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mitochondrial fatty acid oxidation defects--remaining challenges.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Execution of nonsense-mediated mRNA decay: what defines a substrate?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Protein misfolding and human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Protein homeostasis in models of aging and age-related conformational disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Oxidative phosphorylation accompanying oxidation of short-chain fatty acids by rat-liver mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Studies on the Effects of Saturated and Unsaturated Short-Chain Monocarboxylic Acids on the Energy Metabolism of Rat Liver Mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Disturbance of mitochondrial energy homeostasis caused by the metabolites accumulating in LCHAD and MTP deficiencies in rat brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Toxicity of octanoate and decanoate in rat peripheral tissues: evidence of bioenergetic dysfunction and oxidative damage induction in liver and skeletal muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Inhibition of histone deacetylase activity by butyrate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mitochondria and energetic depression in cell pathophysiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Translating the basic knowledge of mitochondrial functions to metabolic therapy: role of L-carnitine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Oxidative stress in phenylketonuria: what is the evidence?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Oxidative stress in phenylketonuria: future directions.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

How mitochondria produce reactive oxygen species

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Molecular mechanisms of superoxide production by the mitochondrial respiratory chain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Topology of superoxide production from different sites in the mitochondrial electron transport chain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mitochondrial dysfunction and lipotoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mitochondrial respiratory supercomplex association limits production of reactive oxygen species from complex I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Protein misfolding and cellular stress: an overview

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Physiological roles of mitochondrial reactive oxygen species

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mitochondrial quality control: an integrated network of pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Cellular response to oxidative stress: signaling for suicide and survival

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Reactive oxygen species (ROS) homeostasis and redox regulation in cellular signaling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Regulatory control or oxidative damage? Proteomic approaches to interrogate the role of cysteine oxidation status in biological processes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Systems analysis of protein modification and cellular responses induced by electrophile stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Role of Nrf2 in oxidative stress and toxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Keap1: one stone kills three birds Nrf2, IKKβ and Bcl-2/Bcl-xL.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Prolyl 4 hydroxylase: a critical target in the pathophysiology of diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Nutrient sensing, metabolism, and cell growth control

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Oxygen versus Reactive Oxygen in the Regulation of HIF-1α: The Balance Tips

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Hypoxia-inducible factor-1alpha stabilization in nonhypoxic conditions: role of oxidation and intracellular ascorbate depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Signal transduction by mitochondrial oxidants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

SENP3 is responsible for HIF-1 transactivation under mild oxidative stress via p300 de-SUMOylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

The biphasic redox sensing of SENP3 accounts for the HIF-1 transcriptional activity shift by oxidative stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mitochondrial respiratory chain Complexes I and IV are impaired by β-amyloid via direct interaction and through Complex I-dependent ROS production, respectively.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Oxidative shielding or oxidative stress?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Preparation of separated alpha and beta subunits of electron-transferring flavoprotein in unfolded forms and their restoration to the native holoprotein form

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Riboflavin-responsive defects of beta-oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Effect of mitochondrial dysfunction and oxidative stress on endogenous levels of coenzyme Q(10) in human cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Gatekeepers of chromatin: Small metabolites elicit big changes in gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Coenzyme Q10 increases the fatty acid oxidation through AMPK-mediated PPARα induction in 3T3-L1 preadipocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

7 January 2021

Mitochondrial medicine

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.007

10.1016/J.YMGME.2013.10.007

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24206932%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference