(Q35170886)

6 August 2017

title

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair (English)

1 reference

L-2-hydroxyglutaric aciduria

6 August 2017

main subject

1 reference

3

Etienne Marbaix

0 references

Emile Van Schaftingen

object named as

Emile Van Schaftingen

10

0 references

author name string

Rim Rzem

1

1 reference

6 August 2017

Younes Achouri

2

1 reference

6 August 2017

Olivier Schakman

4

1 reference

6 August 2017

Elsa Wiame

5

1 reference

6 August 2017

Sandrine Marie

6

1 reference

6 August 2017

Philippe Gailly

7

1 reference

6 August 2017

Marie-Françoise Vincent

8

1 reference

6 August 2017

Maria Veiga-da-Cunha

9

1 reference

6 August 2017

language of work or name

English

0 references

publication date

12 March 2015

1 reference

6 August 2017

1 reference

6 August 2017

volume

10

1 reference

6 August 2017

issue

3

1 reference

6 August 2017

page(s)

e0119540

1 reference

Creative Commons Attribution 4.0 International

6 August 2017

copyright license

start time

12 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

28 July 2018

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L-2-hydroxyglutaric aciduria, a defect of metabolite repair

28 July 2018

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Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons

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Transport characteristics of N-acetyl-L-aspartate in rat astrocytes: involvement of sodium-coupled high-affinity carboxylate transporter NaC3/NaDC3-mediated transport system

28 July 2018

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L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings

28 July 2018

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A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

28 July 2018

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L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

28 July 2018

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28 July 2018

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28 July 2018

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Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria

28 July 2018

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L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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27 September 2018

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27 September 2018

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27 September 2018

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27 September 2018

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27 September 2018

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27 September 2018

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Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias

27 September 2018

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Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

27 September 2018

1 reference

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27 September 2018

1 reference

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The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

L-2-hydroxyglutaric aciduria: a report of 29 patients

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

A reliable lacZ expression reporter cassette for multipurpose, knockout-first alleles

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

L-2-hydroxyglutaric aciduria in two siblings

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

Trimethyltin syndrome as a hippocampal degeneration model: temporal changes and neurochemical features of seizure susceptibility and learning impairment

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357467

Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25763823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reduction of alpha-ketoglutarate by homogeneous lactic dehydrogenase X of testicular tissue

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25763823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2,3-bisphosphoglycerate phosphatase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25763823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0119540

1 reference

6 August 2017

0 references

1 reference

6 August 2017

1 reference