(Q28282635)

English

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

scientific article

In more languages

Statements

scholarly article

0 references

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 (English)

0 references

0 references

17

0 references

object named as

Søren Vang

16

0 references

object named as

Antonia Ribes

11

0 references

Brage Storstein Andresen

object named as

Brage S Andresen

15

0 references

object named as

Jerry Vockley

18

0 references

Thomas Juhl Corydon

object named as

Thomas J Corydon

14

0 references

object named as

Peter Bross

19

0 references

author name string

Christina B Pedersen

1

0 references

Steen Kølvraa

2

0 references

Agnete Kølvraa

3

0 references

Vibeke Stenbroen

4

0 references

Margrethe Kjeldsen

5

0 references

Regina Ensenauer

6

0 references

Ingrid Tein

7

0 references

Dietrich Matern

8

0 references

Piero Rinaldo

9

0 references

Christine Vianey-Saban

10

0 references

Willy Lehnert

12

0 references

Ernst Christensen

13

0 references

Niels Gregersen

20

0 references

language of work or name

0 references

publication date

August 2008

0 references

0 references

124

0 references

1

0 references

43-56

0 references

https://scigraph.springernature.com/pub.10.1007/s00439-008-0521-9

0 references

Cellular Events Involved in Butyric Acid-Induced T Cell Apoptosis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0521-9

21 January 2018

Amyotrophic lateral sclerosis: a proposed mechanism

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0521-9

21 January 2018

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0521-9

21 January 2018

Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0521-9

21 January 2018

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene expression profile of butyrate-inhibited vascular smooth muscle cell proliferation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acyl-CoA:glycine N-acyltransferase: organelle localization and affinity toward straight- and branched-chained acyl-CoA esters in rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is there an astrocyte-neuron ketone body shuttle?

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein folding and misfolding

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acyl-CoA: glycine N-acyltransferase: in vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening: toward a uniform screening panel and system--executive summary

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium butyrate inhibits histone deacetylation in cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency in short-chain fatty acid beta-oxidation affects theta oscillations during sleep.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elucidating the folding problem of alpha-helices: local motifs, long-range electrostatics, ionic-strength dependence and prediction of NMR parameters.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural organization of the human short-chain acyl-CoA dehydrogenase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulation of neurodegeneration by molecular chaperones

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brain malformation and infantile spasms in a SCAD deficiency patient.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amino acid polymorphism (Gly209Ser) in the ACADS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rationalization of the effects of mutations on peptide and protein aggregation rates.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unraveling the mechanisms involved in motor neuron degeneration in ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects of mitochondrial beta-oxidation: a growing group of disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatty acid oxidation and ketogenesis by astrocytes in primary culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatty acid oxidation disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protofibrils, pores, fibrils, and neurodegeneration: separating the responsible protein aggregates from the innocent bystanders

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein misfolding and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kinetic partitioning of protein folding and aggregation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-008-0521-9

0 references

Dimensions Publication ID

0 references

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28282635&oldid=1947239533"