(Q32874878)

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The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

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Europe PubMed Central

PubMed publication ID

11 July 2017

The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (English)

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Europe PubMed Central

PubMed publication ID

11 July 2017

Solute carrier family 25 member 29

1 reference

GOA release 2020-03-11

mitochondrial L-ornithine transmembrane transport

1 reference

GOA release 2020-03-11

Solute carrier family 25 (mitochondrial carrier, palmitoylcarnitine transporter), member 29

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GOA release 2020-03-11

author name string

José A Camacho

1

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Europe PubMed Central

PubMed publication ID

11 July 2017

Natalia Rioseco-Camacho

2

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Europe PubMed Central

PubMed publication ID

11 July 2017

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publication date

1 July 2009

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Europe PubMed Central

PubMed publication ID

11 July 2017

Pediatric Research

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Europe PubMed Central

PubMed publication ID

11 July 2017

66

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Europe PubMed Central

PubMed publication ID

11 July 2017

1

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Europe PubMed Central

PubMed publication ID

11 July 2017

35-41

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Europe PubMed Central

PubMed publication ID

11 July 2017

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Substrate and functional diversity of lysine acetylation revealed by a proteomics survey

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Diseases caused by defects of mitochondrial carriers: a review

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Evidence based selection of housekeeping genes

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Mitochondrial carriers in the cytoplasmic state have a common substrate binding site

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Arabidopsis mitochondria have two basic amino acid transporters with partially overlapping specificities and differential expression in seedling development.

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181A283C1

21 January 2018

Identifiers

10.1203/PDR.0B013E3181A283C1

1 reference

Europe PubMed Central

PubMed publication ID

11 July 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 July 2017

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