Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia (Q28506798)

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17 November 2019

title

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia (English)

2 references

24 January 2017

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Solute carrier family 25 (mitochondrial carrier, Aralar), member 12

17 November 2019

main subject

knockout mouse

0 references

1 reference

Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13

1 reference

Argininosuccinate synthetase 1

1 reference

Glutamatic-oxaloacetic transaminase 2, mitochondrial

1 reference

citrullinemia type II

1 reference

1 reference

2

1 reference

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17 November 2019

author name string

Laila Begum

4

2 references

24 January 2017

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17 November 2019

Meng Xian Li

5

2 references

24 January 2017

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17 November 2019

Mikio Iijima

6

2 references

24 January 2017

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17 November 2019

Masahisa Horiuchi

7

2 references

24 January 2017

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17 November 2019

Keiko Kobayashi

9

2 references

24 January 2017

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17 November 2019

Takeyori Saheki

10

2 references

24 January 2017

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17 November 2019

Lap-Chee Tsui

11

2 references

24 January 2017

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17 November 2019

David S Sinasac

1

1 reference

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17 November 2019

M Abdul Jalil

3

1 reference

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17 November 2019

Brian H Robinson

8

1 reference

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17 November 2019

language of work or name

English

0 references

publication date

1 January 2004

2 references

24 January 2017

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Molecular and Cellular Biology

17 November 2019

published in

2 references

24 January 2017

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17 November 2019

volume

24

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24 January 2017

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17 November 2019

issue

2

2 references

24 January 2017

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17 November 2019

page(s)

527-536

1 reference

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Protein measurement with the Folin phenol reagent

17 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

19 March 2017

1 reference

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Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

1 reference

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Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Derivation of completely cell culture-derived mice from early-passage embryonic stem cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

A search for the primary abnormality in adult-onset type II citrullinemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Mitochondrial-cytosolic interactions in cardiac tissue: role of the malate-aspartate cycle in the removal of glycolytic NADH from the cytosol

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Messenger RNA coding for argininosuccinate synthetase in citrullinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Enzymatic analysis of citrullinemia (12 cases) in Japan.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Interrelationships between gluconeogenesis and ureogenesis in isolated hepatocytes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Neonatal presentation of adult-onset type II citrullinemia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Interrelationships between malate-aspartate shuttle and citric acid cycle in rat heart mitochondria

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=343808

Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease

27 November 2018

1 reference

12 December 2020

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

1 reference

12 December 2020

The effect of carnitine on ketogenesis in perfused livers from juvenile visceral steatosis mice with systemic carnitine deficiency

1 reference

12 December 2020

Rapid determination of ammonia in whole blood and plasma using flow injection analysis

1 reference

12 December 2020

Reducing equivalent shuttles in developing porcine myocardium: enhanced capacity in the newborn heart

1 reference

12 December 2020

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients

1 reference

12 December 2020

Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator

1 reference

12 December 2020

The capacity of the malate-aspartate shuttle differs between periportal and perivenous hepatocytes from rats

1 reference

12 December 2020

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia

1 reference

12 December 2020

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

12 December 2020

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

1 reference

12 December 2020

Development of enzymes of glycerol metabolism in human fetal liver

1 reference

12 December 2020

Increased urinary excretion of argininosuccinate in type II citrullinemia

1 reference

12 December 2020

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

1 reference

12 December 2020

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia

1 reference

12 December 2020

Penetration of the mitochondrial membrane by glutamate and aspartate

1 reference

12 December 2020

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

12 December 2020

Northern blotting of RNA denatured in glyoxal without buffer recirculation

1 reference

12 December 2020

10.1128/MCB.24.2.527-536.2004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14701727%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14701727%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

2 references

24 January 2017