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13 documents found
1: Title: Asymmetric dimethylarginine is transported by the mitochondrial carrier SLC25A2.
Authors: Porcelli, Vito, et.al. .
Journal: Amino acids, Vol. 48 (2): 427-36, 2016 .
Snippet: It was found that the recombinant, purified mitochondrial solute carrier SLC25A2 when reconstituted into liposomes efficiently transports ADMA in addition to its known substrates arginine, lysine, and ornithine and in contrast to the other known mitochondrial amino acid transporters SLC25A12, SLC25A13, SLC25A15, SLC25A18, SLC25A22, and SLC25A29.
Affiliation: Laboratory of Biochemistry and Molecular Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Via Orabona 4, 70125, Bari, Italy. Department of Pharmacology, University Medical Center of the Johannes Gutenberg-University, Obere Zahlbacher Strasse 67, 55101, Mainz, Germany. Laboratory of Biochemistry and Molecular Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Via Orabona 4, 70125, Bari, Italy. ferdpalmieri@gmail.com. .
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2: Title: Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
Authors: Monné, Magnus, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 287 (11): 7925-34, 2012 .
Snippet: Mitochondrial carriers are a large family of proteins that transport specific metabolites across the inner mitochondrial membrane.
Affiliation: Department of Pharmaco-Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Via E. Orabona 4, 70125 Bari, Italy. .
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3: Title: Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Authors: Tessa, Alessandra, et.al. .
Journal: Human mutation (Hum Mutat), Vol. 30 (5): 741-8, 2009 .
Snippet: Neither modifications in oxidative metabolism-related energy, such as those expected in different mtDNA haplogroups, nor sequence variants in SLC25A2/ORC2 seem to be crucial.
Affiliation: Molecular Medicine and Metabolism, Istituto di Ricovero e Cura a Carattere Scientifico Children's Hospital Bambino Gesù, Rome, Italy. .
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4: Title: Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
Authors: Debray, F-G, et.al. .
Journal: Journal of medical genetics (J Med Genet), Vol. 45 (11): 759-64, 2008 .
Snippet: BACKGROUND: Hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15.
Affiliation: Division of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montreal, Montreal, Quebec, Canada. .
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5: Title: 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.
Authors: Camacho, José A, et.al. .
Journal: Molecular genetics and metabolism (Mol Genet Metab), Vol. 79 (4): 257-71, 2003 .
Snippet: Despite the apparent functional ablation of ORNT1 in 10 French-Canadian probands with the ORNT1-F188 Delta allele, these patients are mildly affected when compared to patients with other urea cycle disorders such as deficiency of ornithine transcarbamylase.
Affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, 975 N.E. 10th Street, Biomedical Research Center, Room BRC-256, Oklahoma City, OK 73104, USA. jose-camacho@ouhsc.edu .
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6: Title: The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
Authors: Fiermonte, Giuseppe, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 278 (35): 32778-83, 2003 .
Snippet: expression, reconstitution, functional characterization, and tissue distribution of two human isoforms ORC1 and ORC2
Affiliation: Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari, Via Orabona 4, 70125 Bari, Italy. .
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7: Title: [Mitochondrial ornithine transporter deficiency].
Authors: Tsujino, Seiichi, et.al. .
Journal: Nihon rinsho. Japanese journal of clinical medicine (Nippon Rinsho), Vol. 60 Suppl 4, 2002 .
No Abstract available.
Affiliation: Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry. .
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8: Title: Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice.
Authors: Begum, Laila, et.al. .
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), Vol. 1574 (3): 283-92, 2002 .
Snippet: The present report describes the expression profiles of different tissues and developmental changes of mouse aspartate/glutamate carrier (AGC) genes, Slc25a13 and Slc25a12, and an ornithine transporter gene, Ornt1, in relation to urea cycle enzyme genes, carbamoylphosphate synthetase I (CPS) and argininosuccinate synthetase (ASS).
Affiliation: Department of Biochemistry, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, 890-8520, Kagoshima, Japan. .
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9: Title: [Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].
Authors: Tsujino, S, et.al. .
Journal: Nihon rinsho. Japanese journal of clinical medicine (Nippon Rinsho), Vol. 59 (11): 2278-84, 2001 .
Snippet: Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia and episodic disturbance of consciousness or coma due to hyperammonemia.
Affiliation: Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry. .
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10: Title: Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
Authors: Miyamoto, T, et.al. .
Journal: Journal of human genetics (J Hum Genet), Vol. 46 (5): 260-2, 2001 .
Snippet: Patients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma due to hyperammonemia.
Affiliation: Department of Inherited Metabolic Disease, National Institute of Neuroscience, Kodaira, Tokyo, Japan. .
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11: Title: Identification and functions of new transporters in yeast mitochondria.
Authors: Palmieri, L, et.al. .
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), Vol. 1459 (2-3): 363-9, 2000 .
Snippet: We are attempting to identify the functions of the yeast mitochondrial transporters via high-yield expression in Escherichia coli and/or S. cerevisiae, purification and reconstitution of their protein products into liposomes, where their transport properties are investigated.
Affiliation: Department of Pharmaco-Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Italy. lpalm@farmbiol.uniba.it .
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12: Title: Mammalian mitochondrial inner membrane cationic and neutral amino acid carriers.
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), Vol. 1459 (2-3): 356-62, 2000 .
No Abstract available.
Affiliation: Department of Biochemistry, Trinity College Dublin, 2, Dublin, Ireland. rkporter@tcd.ie .
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13: Title: Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Authors: Camacho, J A, et.al. .
Journal: Nature genetics (Nat Genet), Vol. 22 (2): 151-8, 1999 .
Snippet: Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport ornithine across the mitochondrial inner membrane.
Affiliation: Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. .
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