(Q36947242)

17 August 2017

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival (English)

1 reference

17 August 2017

Dong Wang

1

1 reference

17 August 2017

Hong Yang

2

1 reference

17 August 2017

Kevin C De Braganca

3

1 reference

17 August 2017

Jiesheng Lu

4

1 reference

17 August 2017

Ling Yu Shih

5

1 reference

17 August 2017

Paz Briones

6

1 reference

17 August 2017

Tim Lang

7

1 reference

17 August 2017

Darryl C De Vivo

8

1 reference

17 August 2017

3 August 2008

1 reference

Molecular Genetics and Metabolism

17 August 2017

1 reference

17 August 2017

95

1 reference

17 August 2017

1-2

1 reference

17 August 2017

31-38

1 reference

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Function of alternative splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Translational regulation of human neuronal nitric-oxide synthase by an alternatively spliced 5'-untranslated region leader exon

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

A proinsulin gene splice variant with increased translation efficiency is expressed in human pancreatic islets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Identification of novel alternatively spliced pyruvate carboxylase mRNAs with divergent 5'-untranslated regions which are expressed in a tissue-specific manner

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Regulation of gene expression by alternative promoters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

cDNA cloning of human kidney pyruvate carboxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Primary amino acid sequence and structure of human pyruvate carboxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

The structure and the mechanism of action of pyruvate carboxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Molecular cloning of a cDNA for human pyruvate carboxylase. Structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

The CpG dinucleotide and human genetic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Structural properties of pyruvate carboxylases from chicken liver and other sources

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Hyperalaninemia with Pyruvicemia due to Pyruvate Carboxylase Deficiency of the Liver

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Role of pyruvate carboxylase in fatty acid synthesis: Alterations during preadipocyte differentiation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Acute effect of exercise-hypoxia challenge on GLUT4 protein expression in rat cardiac muscle

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Cloning of bovine pyruvate carboxylase and 5' untranslated region variants

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572257

Pyruvate carboxylase deficiency

4 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.006

A case of benign pyruvate carboxylase deficiency with normal development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.006

Pyruvate carboxylase deficiency: a benign variant with normal development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.006

Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.006

An atypical French form of pyruvate carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.006

Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings

7 January 2021

1 reference

12 December 2020

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency

1 reference

12 December 2020

Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency

1 reference

12 December 2020

[3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency

1 reference

12 December 2020

Hyperglycemia-induced changes in Na+/myo-inositol transport, Na(+)-K(+)-ATPase, and protein kinase C activity in proximal tubule cells

1 reference

12 December 2020

10.1016/J.YMGME.2008.06.006

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18676167

1 reference