Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. (Q46078682)

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24 January 2020

title

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency (English)

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1

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Julie Steffann

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24 January 2020

Jean-Paul Bonnefont

10

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Arnold Munnich

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2

Valérie Serre

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Pascale De Lonlay

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24 January 2020

author name string

Bernadette Chadefaux-Vekemans

3

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24 January 2020

Joelle Aupetit

4

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Stéphane Romano

5

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Jean-Marie Rival

7

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publication date

1 May 2009

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24 January 2020

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24 January 2020

volume

30

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issue

5

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page(s)

734-740

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Primary amino acid sequence and structure of human pyruvate carboxylase

24 January 2020

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20908

The structure and the mechanism of action of pyruvate carboxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20908

1 reference

7 January 2021

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

A case of benign pyruvate carboxylase deficiency with normal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Clustal W and Clustal X version 2.0

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Prenatal diagnosis of pyruvate carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Further electron microscope studies on pyruvate carboxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Rapid and sensitive sequence comparison with FASTP and FASTA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Domain architecture of pyruvate carboxylase, a biotin-dependent multifunctional enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Pyruvate carboxylase deficiency: a benign variant with normal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Crystal structures of human and Staphylococcus aureus pyruvate carboxylase and molecular insights into the carboxyltransfer reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20908

7 January 2021

Identifiers

DOI

10.1002/HUMU.20908

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24 January 2020

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