Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria (Q28288463)

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Ana Pop

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Erwin E Jansen

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Matilde R Fernandez Ojeda

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Warsha A Kanhai

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Martijn Kranendijk

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Silvy J M van Dooren

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Marianna R Bevova

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Aggie W M Nieuwint

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Magalie Barth

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Georg F Hoffmann

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Pascale de Lonlay

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Marie T McDonald

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Alf Meberg

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Ania C Muntau

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Marie-Hélène Read

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Axel Renneberg

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René Santer

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Thomas Strahleck

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Marjo S van der Knaap

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Cornelis Jakobs

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Gajja S Salomons

American Journal of Human Genetics

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language of work or name

English

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publication date

4 April 2013

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published in

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volume

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issue

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page(s)

627-31

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cites work

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1 reference

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Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

20 March 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

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Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

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Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

20 March 2017

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The mitochondrial transporter family (SLC25): physiological and pathological implications

20 March 2017

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Predicting deleterious amino acid substitutions

20 March 2017

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Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

20 March 2017

1 reference

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Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region

20 March 2017

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IDH mutation impairs histone demethylation and results in a block to cell differentiation

20 March 2017

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

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ATP-citrate lyase links cellular metabolism to histone acetylation

7 April 2017

1 reference

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IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype

7 April 2017

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The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis

7 April 2017

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Progress in understanding 2-hydroxyglutaric acidurias

29 September 2017

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Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.

29 September 2017

1 reference

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Understanding the central role of citrate in the metabolism of cancer cells

29 September 2017

1 reference

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Revisiting the TCA cycle: signaling to tumor formation

29 September 2017

1 reference

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IDH mutations in glioma and acute myeloid leukemia

29 September 2017

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VarScan: variant detection in massively parallel sequencing of individual and pooled samples

29 September 2017

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Citrate transport and metabolism in mammalian cells: prostate epithelial cells and prostate cancer

29 September 2017

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Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

29 September 2017

1 reference

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Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.

29 September 2017

1 reference

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Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders

29 September 2017

1 reference

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A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617390

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617390

Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23561848

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23561848

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.03.009

1 reference

1 reference

1 reference

PubMed publication ID

23561848

1 reference