(Q43754216)

English

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

based on heuristic

inferred from title

Johan Palmfeldt

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Jane B Frederiksen

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Anne S Bie

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jakob Hansen

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Marit N Nielsen

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Morten Duno

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Ernst Christensen

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

1 reference

based on heuristic

inferred from title

publication date

10 January 2012

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

35

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

787-796

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231382%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Protein misfolding and degradation in genetic diseases.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Glutaric aciduria types I and II.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Diagnosis and management of glutaric aciduria type I--revised recommendations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Myotonia congenita

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Type I glutaric aciduria, part 1: natural history of 77 patients

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Acyl-CoA dehydrogenases: Dynamic history of protein family evolution

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

Dominant versus recessive: molecular mechanisms in metabolic disease

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9437-Y

21 January 2018

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/22231382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/22231382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer

1 reference

https://pubmed.ncbi.nlm.nih.gov/22231382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A set of pBR322-compatible plasmids allowing the testing of chaperone-assisted folding of proteins overexpressed in Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/22231382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/22231382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/22231382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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=Q43754216&oldid=2206240138"