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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

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Overexpression of SLC25A15 is involved in the proliferation of cutaneous melanoma and leads to poor prognosis.
  • Shumeng 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… 
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… 
2015
2015
Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.
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… 
2006
2006
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
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… 
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… 
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