(Q37686965)

English

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

scientific article published on 09 September 2011

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scholarly article

1 reference

Europe PubMed Central

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5 February 2020

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21681857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Ljubica Caldovic

3

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5 February 2020

author name string

Sandra K Heibel

1

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5 February 2020

Nicholas Ah Mew

2

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5 February 2020

Yevgeny Daikhin

4

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5 February 2020

Marc Yudkoff

5

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5 February 2020

Mendel Tuchman

6

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5 February 2020

publication date

9 September 2011

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5 February 2020

1 reference

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5 February 2020

32

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5 February 2020

10

1 reference

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5 February 2020

1153-1160

1 reference

Europe PubMed Central

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5 February 2020

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

1 reference

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23 August 2017

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 August 2017

Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis

1 reference

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23 August 2017

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

1 reference

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23 August 2017

N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 August 2017

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test

1 reference

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23 August 2017

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 August 2017

Isolation and characterization of a naturally occurring cofactor of carbamyl phosphate biosynthesis

1 reference

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23 August 2017

N-acetylglutamate and its changing role through evolution

1 reference

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23 August 2017

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

1 reference

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23 August 2017

Cloning and expression of the human N-acetylglutamate synthase gene

1 reference

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23 August 2017

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

1 reference

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23 August 2017

A human genome diversity cell line panel

1 reference

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23 August 2017

Current strategies for the management of neonatal urea cycle disorders

1 reference

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23 August 2017

dbSNP: the NCBI database of genetic variation

1 reference

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23 August 2017

In vivo research with stable isotopes in biochemistry, nutrition and clinical medicine: an overview

1 reference

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23 August 2017

Purified hepatocyte nuclear factor 1 interacts with a family of hepatocyte-specific promoters

1 reference

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23 August 2017

Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 August 2017

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 August 2017

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

14 September 2017

New pathways of nitrogen excretion in inborn errors of urea synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

14 September 2017

Synergistic trans-activation of the human C-reactive protein promoter by transcription factor HNF-1 binding at two distinct sites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

28 September 2017

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 June 2018

Hyperammonemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

23 June 2018

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Functional polymorphisms associated with human muscle size and strength

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Hyperammonaemia as a cause of psychosis in an adolescent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Mutation analysis in patients with N-acetylglutamate synthase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Hepatocyte nuclear factor-1 alpha (HNF-1 alpha) and HNF-1 beta regulate transcription via two elements in an intestine-specific promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

HNF1 alpha activates the aminopeptidase N promoter in intestinal (Caco-2) cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976964

1 September 2018

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

1 reference

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1 September 2018

Acute and chronic effects of carbamyl glutamate on blood urea and ammonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

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Role of glucose in the regulation of endogenous glucose production in the human newborn

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mechanism for valproate-induced hyperammonemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

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The transcription factor HNF1 acts with C/EBP alpha to synergistically activate the human albumin promoter through a novel domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N ‐acetylglutamate synthetase deficiency: Clinical and laboratory observations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-acetylglutamate synthetase deficiency, a second patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21681857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21553

1 reference

Europe PubMed Central

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5 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21681857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21681857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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