(Q40646437)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

C Pérez-Cerdá

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Clavero

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

B Pérez

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

P Rodríguez-Pombo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L R Desviat

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Ugarte

6

1 reference

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3 November 2019

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

1638

1 reference

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3 November 2019

issue

1

1 reference

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3 November 2019

page(s)

43-49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

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

3 November 2019

cites work

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Functional characterization of PCCA mutations causing propionic acidemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Late onset type of propionic acidaemia: case report and biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Odd-numbered long-chain fatty acids in propionic acidaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

Propionic acidaemia presenting with pancytopaenia in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900039-5

7 January 2021

10.1016/S0925-4439(03)00039-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12757933%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference