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SLC25A15 gene

Known as: ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1, SLC25A15, solute carrier family 25 member 15 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2016
01220032016

Papers overview

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2017
2017
[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].
Objective: To study the clinical characteristics, methods of diagnosis and treatment of hyperornithinemia-hyperammonemia… (More)
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2016
2016
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive metabolic disorder usually presenting… (More)
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2014
2014
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional… (More)
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Review
2012
Review
2012
Array-based comparative genomic hybridization for genomic-wide screening of DNA copy number alterations in aggressive bone tumors
BACKGROUND The genetic pathways of aggressive changes of bone tumors are still poorly understood. It is very important to analyze… (More)
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2012
2012
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation… (More)
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2009
2009
The Human and Mouse SLC25A29 Mitochondrial Transporters Rescue the Deficient Ornithine Metabolism in Fibroblasts of Patients With the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle (UCD) and ornithine… (More)
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2003
2003
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria…
We recently characterized the mitochondrial ornithine transporter (ORNT1), the gene defective in the hyperornithinemia… (More)
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