Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (Q36040254)

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English	Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency	scientific article

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scholarly article

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Europe PubMed Central

11 August 2017

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (English)

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11 August 2017

Thomas Meitinger

42

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Johan Palmfeldt

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Johan Palmfeldt

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Teresa A. Giancaspero

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Teresa A Giancaspero

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Michele Galluccio

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Michele Galluccio

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Johannes A Mayr

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Johannes A Mayr

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Maria Barile

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Daniele Ghezzi

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Holger Prokisch

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Holger Prokisch

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Rita Horvath

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Haluk Topaloglu

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Haluk Topaloglu

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Piero Leone

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Angela Pyle

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Patrick F. Chinnery

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Patrick F Chinnery

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Veronika Boczonadi

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Veronika Boczonadi

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Tobias B Haack

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43

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Tim M Strom

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Vassiliki Konstantopoulou

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Vassiliki Konstantopoulou

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Lavinija Mataković

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Lavinija Mataković

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Thomas Schwarzmayr

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Thomas Schwarzmayr

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Caterina Terrile

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Caterina Terrile

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René G Feichtinger

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René G Feichtinger

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Apolline Imbard

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Apolline Imbard

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Manuel Schiff

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Beril Talim

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author name string

Rikke K J Olsen

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Eliška Koňaříková

2

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Signe Mosegaard

4

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Alice Veauville-Merllié

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Mari Auranen

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11 August 2017

Purificacion Gutierrez-Rios

15

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Elisabeth Graf

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Christine Vianey-Saban

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Marcus Oppenheim

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Samia Pichard

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Odile Rigal

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Dorothea Möslinger

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Turgay Coskun

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Safak Gucer

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Annalisa Botta

32

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Elena Pegoraro

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Adriana Malena

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Lodovica Vergani

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Daniela Mazzà

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Marcella Zollino

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Cecile Acquaviva

39

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Tiina Tyni

40

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Avihu Boneh

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Niels Gregersen

44

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11 August 2017

language of work or name

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publication date

1 June 2016

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11 August 2017

American Journal of Human Genetics

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11 August 2017

98

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11 August 2017

1130-1145

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6

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11 August 2017

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908180

2 October 2017

Human FAD synthase is a bi-functional enzyme with a FAD hydrolase activity in the molybdopterin binding domain

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908180

2 October 2017

Remaining challenges in cellular flavin cofactor homeostasis and flavoprotein biogenesis

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2 October 2017

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

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Exome sequencing in undiagnosed inherited and sporadic ataxias

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Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

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2 October 2017

FAD synthesis and degradation in the nucleus create a local flavin cofactor pool

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ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

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2 October 2017

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

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2 October 2017

The human flavoproteome

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2 October 2017

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

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2 October 2017

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

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2 October 2017

Biosynthesis of flavin cofactors in man: implications in health and disease.

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2 October 2017

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

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2 October 2017

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

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2 October 2017

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

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2 October 2017

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

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2 October 2017

Quantitative proteomics reveals cellular targets of celastrol

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2 October 2017

Integrative genomics viewer

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2 October 2017

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

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2 October 2017

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

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2 October 2017

The electron transfer flavoprotein: ubiquinone oxidoreductases

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2 October 2017

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

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2 October 2017

Skyline: an open source document editor for creating and analyzing targeted proteomics experiments

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2 October 2017

Mitochondrial localization of human FAD synthetase isoform 1.

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2 October 2017

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

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2 October 2017

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

1 reference

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2 October 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908180

2 October 2017

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2 October 2017

Over-expression in Escherichia coli, purification and characterization of isoform 2 of human FAD synthetase

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Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways

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2 October 2017

Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase.

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2 October 2017

How do cofactors modulate protein folding?

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2 October 2017

Riboflavin uptake and FAD synthesis in Saccharomyces cerevisiae mitochondria: involvement of the Flx1p carrier in FAD export

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

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2 October 2017

A trail of research on cofactors: an odyssey with friends

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2 October 2017

Riboflavin deficiency is associated with selective preservation of critical flavoenzyme-dependent metabolic pathways

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Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

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11 July 2018

Dual-targeted proteins tend to be more evolutionarily conserved.

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23 September 2018

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

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23 September 2018

Bacterial over-expression and purification of the 3'phosphoadenosine 5'phosphosulfate (PAPS) reductase domain of human FAD synthase: functional characterization and homology modeling

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23 September 2018

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

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23 September 2018

Silencing of FAD synthase gene in Caenorhabditis elegans upsets protein homeostasis and impacts on complex behavioral patterns

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23 September 2018

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

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23 September 2018

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

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23 September 2018

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

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23 September 2018

The occurrence of riboflavin kinase and FAD synthetase ensures FAD synthesis in tobacco mitochondria and maintenance of cellular redox status

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23 September 2018

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient

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23 September 2018

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

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21 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of the B2 vitamer flavin--adenine dinucleotide in whole blood by high-performance liquid chromatography with fluorometric detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered acyl-CoA metabolism in riboflavin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significance of redox-active cysteines in human FAD synthase isoform 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human FAD synthase (isoform 2): a component of the machinery that delivers FAD to apo-flavoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/27259049

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2016.04.006

1 reference

Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

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