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SLC25A15 gene

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

Papers overview

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2018
2018
Overexpression of SLC25A15 is involved in the proliferation of cutaneous melanoma and leads to poor prognosis.
  • Shu-Meng Ji
  • Medecine sciences : M/S
  • 2018
    • Corpus ID: 53226879
Melanoma is a skin tumor with a high degree of malignancy, poor prognosis and few effective therapies. Deprivation of the… Expand
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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… Expand
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Review
2016
Review
2016
Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent…
Dear Editor, H y p e r o r n i t h i n a e m i a h y p e r a m m o n a e m i a homocitrullinuria (HHH) syndrome (OMIM #238970) is… Expand
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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… Expand
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2008
2008
Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1… Expand
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2006
2006
Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
We studied two related families (HHH013 and HHH015) with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a… Expand
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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… Expand
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2001
2001
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
AbstractPatients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms… Expand
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2000
2000
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including… Expand
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Review
1999
Review
1999
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport… Expand
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