Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening (Q24312099)

medium-chain-acyl-CoA dehydrogenase activity

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

Esther M Maier

1

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Søren W Gersting

2

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Kristina F Kemter

3

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Johanna M Jank

4

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Maria Reindl

5

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Dunja D Messing

6

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Marietta S Truger

7

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Christian P Sommerhoff

8

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Ania C Muntau

Structure of the transition state analog of medium-chain acyl-CoA dehydrogenase. Crystallographic and molecular orbital studies on the charge-transfer complex of medium-chain acyl-CoA dehydrogenase with 3-thiaoctanoyl-CoA

9

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language of work or name

English

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publication date

1 May 2009

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published in

Human Molecular Genetics

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volume

18

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issue

9

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page(s)

1612-23

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cites work

1 reference

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Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability

19 March 2017

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Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions

19 March 2017

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

19 March 2017

1 reference

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Escherichia coli maltose-binding protein is uncommonly effective at promoting the solubility of polypeptides to which it is fused

19 March 2017

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Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme

19 March 2017

1 reference

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Chemical and biological approaches synergize to ameliorate protein-folding diseases.

19 March 2017

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Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

27 September 2017

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Dynamics driving function: new insights from electron transferring flavoproteins and partner complexes.

27 September 2017

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

27 September 2017

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The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

27 September 2017

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Probing protein structure by limited proteolysis.

27 September 2017

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Acyl-CoA dehydrogenases and acyl-CoA oxidases. Structural basis for mechanistic similarities and differences

27 September 2017

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Population screening in the age of genomic medicine

27 September 2017

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The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

27 September 2017

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Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

27 September 2017

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Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

27 September 2017

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Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.

27 September 2017

1 reference

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Fluorescence Spectroscopy

27 September 2017

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Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

27 September 2017

1 reference

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GroE heat-shock proteins promote assembly of foreign prokaryotic ribulose bisphosphate carboxylase oligomers in Escherichia coli.

27 September 2017

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Mitochondrial fatty acid oxidation defects--remaining challenges.

19 June 2018

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Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

29 November 2018

1 reference

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Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

29 November 2018

1 reference

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The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

29 November 2018

1 reference

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Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667288

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population

29 November 2018

1 reference

12 December 2020

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

1 reference

12 December 2020

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein

1 reference

12 December 2020

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

12 December 2020

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

1 reference

12 December 2020

release_d7x3pyzedvadbntbwaq4ir3jvq

Identifiers

DOI

10.1093/HMG/DDP079

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d7x3pyzedvadbntbwaq4ir3jvq

24 November 2022