Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency. (Q41600458)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9308370%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

review article

1 reference

title

Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9308370%20AND%20SRC:MED&resulttype=core&format=json

medium chain acyl-CoA dehydrogenase deficiency

6 November 2019

main subject

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author name string

P Bross

series ordinal

1

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6 November 2019

B S Andresen

series ordinal

2

1 reference

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6 November 2019

N Gregersen

series ordinal

3

1 reference

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6 November 2019

publication date

1 January 1998

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Progress in Molecular Biology and Translational Science

6 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9308370%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

58

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6 November 2019

page(s)

301-337

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Molecular chaperones in cellular protein folding

6 November 2019

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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

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Identifiers

DOI

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6 November 2019

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