Functional characterization of PCCA mutations causing propionic acidemia. (Q44183784)

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14 December 2019

title

Functional characterization of PCCA mutations causing propionic acidemia (English)

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14 December 2019

author

Maria Angeles Martínez

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14 December 2019

Sonia Clavero

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14 December 2019

Belén Pérez

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14 December 2019

Celia Pérez-Cerdá

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14 December 2019

Magdalena Ugarte

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14 December 2019

Lourdes R Desviat

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14 December 2019

publication date

1 November 2002

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Biochimica et Biophysica Acta

14 December 2019

published in

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14 December 2019

volume

1588

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14 December 2019

issue

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14 December 2019

page(s)

119-125

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Targeting of nuclear-encoded proteins to the mitochondrial matrix: implications for human genetic defects

14 December 2019

cites work

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7 January 2021

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

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7 January 2021

Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

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7 January 2021

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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7 January 2021

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene

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7 January 2021

Movement of the biotin carboxylase B-domain as a result of ATP binding

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7 January 2021

Structure of the biotinyl domain of acetyl-coenzyme A carboxylase determined by MAD phasing

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7 January 2021

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

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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

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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

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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

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7 January 2021

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

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7 January 2021

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

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

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7 January 2021

A rapid and simple procedure to deplete rat-liver mitochondria of lysosomal activity

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7 January 2021

High resolution solution structure of the 1.3S subunit of transcarboxylase from Propionibacterium shermanii

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A diverse superfamily of enzymes with ATP‐dependent carboxylate—amine/thiol ligase activity

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7 January 2021

Biotin carboxylase comes into the fold

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7 January 2021

Protein misfolding and degradation in genetic diseases.

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7 January 2021

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

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7 January 2021

Covalent Modification of an Exposed Surface Turn Alters the Global Conformation of the Biotin Carrier Domain ofEscherichia coliAcetyl-CoA Carboxylase

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7 January 2021

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Identifiers

DOI

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14 December 2019

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