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SLC25A15 gene
Known as:
ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1
, SLC25A15
, solute carrier family 25 member 15
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National Institutes of Health
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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…
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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…
S. Qadri
,
T. Ting
,
James Sc Lim
,
S. Jamuar
Annals of the Academy of Medicine, Singapore
2016
Corpus ID: 29851959
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…
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2015
2015
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.
Mara Doimo
,
R. Lopreiato
,
+5 authors
L. Salviati
JIMD Reports
2015
Corpus ID: 38271252
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive metabolic disorder usually presenting…
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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
N. Ersoy Tunali
,
C. Marobbio
,
+4 authors
F. Palmieri
Molecular Genetics and Metabolism
2014
Corpus ID: 597559
2008
2008
Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis
Z. Al-Hassnan
,
M. Rashed
,
O. Al-Dirbashi
,
Z. Patay
,
Z. Rahbeeni
,
K. Abu-Amero
Journal of Neurological Sciences
2008
Corpus ID: 33162116
2006
2006
Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
J. A. Camacho
,
R. Mardach
,
+6 authors
S. Cederbaum
Pediatric Research
2006
Corpus ID: 24230522
We studied two related families (HHH013 and HHH015) with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a…
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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…
J. A. Camacho
,
N. Rioseco-Camacho
,
Dario Andrade
,
John Porter
,
Jin Kong
Molecular Genetics and Metabolism
2003
Corpus ID: 20789742
2001
2001
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
T. Miyamoto
,
N. Kanazawa
,
+6 authors
S. Tsujino
Journal of Human Genetics
2001
Corpus ID: 1046152
AbstractPatients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms…
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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
S. Tsujino
,
N. Kanazawa
,
+4 authors
Takeshi Yamada
Annals of Neurology
2000
Corpus ID: 12870924
Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including…
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Review
1999
Review
1999
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
J. A. Camacho
,
C. Obie
,
+8 authors
D. Valle
Nature Genetics
1999
Corpus ID: 2376493
Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport…
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