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Academic Journal

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

  • Authors : Kalatzis V; Inserm U574, Hôpital Necker-Enfants Malades, Paris, France. ; Nevo N

Subjects: Cystinosis* ; Mutation*; Cystine/Cystine/Cystine/*metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2004 Jul 01; Vol. 13 (13), pp. 1361-71. Date of Electronic Publication: 2004 May 05.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print

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Academic Journal

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

  • Authors : Phornphutkul C; Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Anikster Y

Subjects: Glycoproteins* ; Phosphotransferases*; Conserved Sequence/Conserved Sequence/Conserved Sequence/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2001 Oct; Vol. 69 (4), pp. 712-21. Date of Electronic Publication: 2001 Aug 14.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

The chorea of McLeod syndrome.

  • Authors : Danek A; Neurologische Klinik, Ludwig-Maximilians-Universität, München, Germany. ; Tison F

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

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2001 Sep; Vol. 16 (5), pp. 882-9.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Print ISSN: 0885-3185 (Print)

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Academic Journal

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

Subjects: Glycoproteins* ; Mutation*; Cystinosis/Cystinosis/Cystinosis/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Sep; Vol. 7 (6), pp. 671-8.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

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Academic Journal

CTNS mutations in patients with cystinosis.

  • Authors : Anikster Y; Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892-1830, USA.; Shotelersuk V

Subjects: Glycoproteins* ; Mutation*; Cystinosis/Cystinosis/Cystinosis/*genetics

  • Source: Human mutation [Hum Mutat] 1999; Vol. 14 (6), pp. 454-8.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

Isolation and characterization of an Escherichia coli mutant lacking the major serine transporter, and cloning of a serine transporter gene.

  • Authors : Ogawa W; Department of Microbiology, Faculty of Pharmaceutical Science, Okayama University, Tsushima.; Kayahara T

Subjects: Amino Acid Transport Systems, Neutral* ; Escherichia coli Proteins* ; Mutation*

  • Source: Journal of biochemistry [J Biochem] 1997 Dec; Vol. 122 (6), pp. 1241-5.Publisher: Oxford University Press Country of Publication: England NLM ID: 0376600 Publication Model: Print Cited Medium: Print ISSN: 0021-924X

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Academic Journal

Spontaneous mutation at the mtr locus in neurospora: the molecular spectrum in wild-type and a mutator strain.

  • Authors : Dillon D; Department of Genetics, University of Washington, Seattle 98195.; Stadler D

Subjects: Amino Acid Transport Systems, Neutral* ; Genes, Fungal* ; Mutation*

  • Source: Genetics [Genetics] 1994 Sep; Vol. 138 (1), pp. 61-74.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Defective cation-coupling mutants of Escherichia coli Na+/proline symport carrier. Characterization and localization of mutations.

  • Authors : Yamato I; Department of Biology, Faculty of Science, University of Tokyo, Japan.; Ohsawa M

Subjects: Amino Acid Transport Systems, Neutral* ; Escherichia coli Proteins* ; Mutation*

  • Source: The Journal of biological chemistry [J Biol Chem] 1990 Feb 15; Vol. 265 (5), pp. 2450-5.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication

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Academic Journal

Proline carrier mutant of Escherichia coli K-12 with altered cation sensitivity of substrate-binding activity: cloning, biochemical characterization, and identification of the mutation.

  • Authors : Ohsawa M; Department of Biology, Faculty of Science, University of Tokyo, Japan.; Mogi T

Subjects: Amino Acid Transport Systems, Neutral* ; Cloning, Molecular* ; Escherichia coli Proteins*

  • Source: Journal of bacteriology [J Bacteriol] 1988 Nov; Vol. 170 (11), pp. 5185-91.Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 2985120R Publication Model: Print Cited Medium: Print

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Academic Journal

Site-specific alteration of cysteine 281, cysteine 344, and cysteine 349 in the proline carrier of Escherichia coli.

  • Authors : Yamato I; Department of Biology, Faculty of Science, University of Tokyo, Japan.; Anraku Y

Subjects: Amino Acid Transport Systems, Neutral* ; Cysteine* ; Escherichia coli Proteins*

  • Source: The Journal of biological chemistry [J Biol Chem] 1988 Nov 05; Vol. 263 (31), pp. 16055-7.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication

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  • 1-10 of  14 results for ""Amino Acid Transport Systems, Neutral""