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Academic Journal

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.

  • Authors : Morizono H; Center for Genetic Medicine, Children's Research Institute, Children's National Medical Center, Washington, DC 20010, USA. ; Woolston JE

Subjects: Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*metabolism ; Mitochondria/Mitochondria/Mitochondria/*metabolism

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2005 Dec; Vol. 86 (4), pp. 431-40. Date of Electronic Publication: 2005 Oct 26.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Two novel deletions in hypotonia-cystinuria syndrome.

  • Authors : Régal L; Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, KU Leuven, Belgium. ; Aydin HI

Subjects: Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*genetics ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*genetics Hypotonia-Cystinuria Syndrome

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 614-6. Date of Electronic Publication: 2012 Jun 26.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.

  • Authors : Marobbio CM; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, via Orabona 4, 70125 Bari, Italy.; Punzi G

Subjects: Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*metabolism ; Mitochondrial Membrane Transport Proteins/Mitochondrial Membrane Transport Proteins/Mitochondrial Membrane Transport Proteins/*genetics HHH syndrome

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2015 May; Vol. 115 (1), pp. 27-32. Date of Electronic Publication: 2015 Mar 17.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.

  • Authors : Ersoy Tunalı N; Department of Molecular Biology and Genetics, Haliç University, Istanbul, Turkey. Electronic address: .; Marobbio CM

Subjects: Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*metabolism ; Urea Cycle Disorders, Inborn/Urea Cycle Disorders, Inborn/Urea Cycle Disorders, Inborn/*complications

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2014 May; Vol. 112 (1), pp. 25-9. Date of Electronic Publication: 2014 Mar 20.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

  • Authors : Bisceglia L; IRCCS Casa Sollievo della Sofferenza, U.O. Genetica Medica, Viale Padre Pio, 71013 San Giovanni Rotondo (FG), Italy. ; Fischetti L

Subjects: Point Mutation*; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2010 Jan; Vol. 99 (1), pp. 42-52.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Internet ISSN: 1096-7206

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Editorial & Opinion

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

Subjects: Mutation*; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2008 Nov; Vol. 95 (3), pp. 192-3. Date of Electronic Publication: 2008 Sep 07.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.

  • Authors : Schmidt C; Institute of Human Genetics, University Hospital, Technical University of Aachen, Germany.; Lahme S

Subjects: Exons* ; Mutation* ; RNA Splicing*

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2005 Feb; Vol. 84 (2), pp. 172-5.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192

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Academic Journal

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 JA; 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. ; Rioseco-Camacho N

Subjects: Citrulline/Citrulline/Citrulline/*analogs & derivatives ; Membrane Transport Proteins/Membrane Transport Proteins/Membrane Transport Proteins/*chemistry ; Membrane Transport Proteins/Membrane Transport Proteins/Membrane Transport Proteins/*genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2003 Aug; Vol. 79 (4), pp. 257-71.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192

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  • 1-8 of  8 results for ""Amino Acid Transport Systems, Basic""