Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes (Q34162466)

31 July 2017

Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes (English)

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31 July 2017

12

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31 July 2017

Fernando Benavides

15

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author name string

Carlos J Perez

1

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31 July 2017

Jean Jaubert

2

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31 July 2017

Jean-Louis Guénet

3

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31 July 2017

Kirstin F Barnhart

4

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31 July 2017

Catherine M Ross-Inta

5

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31 July 2017

Vicente C Quintanilla

6

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31 July 2017

Isabelle Aubin

7

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31 July 2017

Jimi L Brandon

8

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31 July 2017

Nancy W Otto

9

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31 July 2017

John DiGiovanni

10

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31 July 2017

Irma Gimenez-Conti

11

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31 July 2017

Donna F Kusewitt

13

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31 July 2017

Claudio J Conti

14

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31 July 2017

language of work or name

English

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publication date

19 August 2010

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The American Journal of Pathology

31 July 2017

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31 July 2017

177

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31 July 2017

4

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31 July 2017

1958-1968

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Signaling factors in the mechanism of ammonia neurotoxicity

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Investigation of citrullinemia type I variants by in vitro expression studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Structure of human argininosuccinate synthetase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Contrasting features of urea cycle disorders in human patients and knockout mouse models

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Hyperammonemia-induced toxicity for the developing central nervous system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Urea cycle disorders: clinical presentation outside the newborn period.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Nutritional management of urea cycle disorders.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Problems in the management of urea cycle disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Oxidative stress and nitration in neurodegeneration: cause, effect, or association?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

New directions in neuronal migration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Mutant mice with scrambled brains: understanding the signaling pathways that control cell positioning in the CNS.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

The human argininosuccinate synthetase locus and citrullinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Purification and properties of a new enzyme, NG,NG-dimethylarginine dimethylaminohydrolase, from rat kidney

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Congenital hyperammonemic syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Citrullinemia: phenotypic variations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Nitrogen metabolism in neonatal citrullinaemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Prenatal benzoate treatment in urea cycle defects

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Long-term outcome of patients with urea cycle disorders and the question of neonatal screening

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Brain-to-body ratios and time of maturation of the mouse brain

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Cytosolic and mitochondrial isoforms of NADP+-dependent isocitrate dehydrogenases are expressed in cultured rat neurons, astrocytes, oligodendrocytes and microglial cells

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Electrochemical analysis of protein nitrotyrosine and dityrosine in the Alzheimer brain indicates region-specific accumulation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947290

Increased 3-nitrotyrosine in both sporadic and familial amyotrophic lateral sclerosis

9 December 2018

1 reference

12 December 2020

Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice

1 reference

12 December 2020

1 reference

12 December 2020

Elevated plasma concentrations of the endogenous nitric oxide synthase inhibitor asymmetric dimethylarginine in citrullinemia

1 reference

12 December 2020

The regeneration of reduced glutathione in rat forebrain mitochondria identifies metabolic pathways providing the NADPH required

1 reference

12 December 2020

Endogenous nitric oxide synthase inhibitors are responsible for the L -arginine paradox

1 reference

12 December 2020

Overexpression of arginase I in enterocytes of transgenic mice elicits a selective arginine deficiency and affects skin, muscle, and lymphoid development

1 reference

12 December 2020

X-linked transmission of ornithine-transcarbamylase deficiency

1 reference

12 December 2020

Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency

1 reference

12 December 2020

Roles of endogenous nitric oxide in cerebellar cortical development in slice cultures

1 reference

12 December 2020

Mutations and DNA diagnoses of classical citrullinemia

1 reference

12 December 2020

Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

1 reference

12 December 2020

10.2353/AJPATH.2010.100118

Identifiers

DOI

1 reference

release_l62a4lgcxrgznmnu6mfoe4xvcm

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/l62a4lgcxrgznmnu6mfoe4xvcm

24 November 2022

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PMCID

2947290

1 reference

31 July 2017

1 reference