Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. (Q43990617)

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8 November 2019

title

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli (English)

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8 November 2019

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3

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8 November 2019

author name string

Maja Chloupkova

series ordinal

1

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8 November 2019

Kenneth N Maclean

series ordinal

2

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8 November 2019

Jan P Kraus

series ordinal

4

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8 November 2019

publication date

1 June 2002

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8 November 2019

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8 November 2019

volume

19

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8 November 2019

page(s)

629-640

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8 November 2019

issue

6

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Protein misfolding and degradation in genetic diseases.

8 November 2019

cites work

1 reference

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Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia

21 January 2018

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Structure of the PCCA gene and distribution of mutations causing propionic acidemia

21 January 2018

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Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.

21 January 2018

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

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Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

21 January 2018

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Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli

21 January 2018

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Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase

21 January 2018

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Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase

21 January 2018

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

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Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes

21 January 2018

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Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli

21 January 2018

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Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.

21 January 2018

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High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

21 January 2018

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Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

21 January 2018

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Identification, developmental regulation, and response to heat shock of two antigenically related forms of a major nuclear envelope protein in Drosophila embryos: application of an improved method for affinity purification of antibodies using polype

21 January 2018

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An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia

21 January 2018

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GroEL/GroES: structure and function of a two-stroke folding machine

21 January 2018

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Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein

21 January 2018

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Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization

21 January 2018

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Two distinct mutations at the same site in the PCCB gene in propionic acidemia

21 January 2018

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Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online

21 January 2018

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Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase

21 January 2018

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Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

21 January 2018

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Potential relationship between genotype and clinical outcome in propionic acidaemia patients

21 January 2018

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Odd-numbered long-chain fatty acids in propionic acidaemia

21 January 2018

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Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia

21 January 2018

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Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

21 January 2018

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Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/HUMU.10085

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12007220%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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