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Journal Abstract Search

143 related items for PubMed ID: 15756301

  • 1. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
    Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G.
    Eur J Hum Genet; 2005 May; 13(5):628-34. PubMed ID: 15756301
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  • 2. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
    Torrents D, Estévez R, Pineda M, Fernández E, Lloberas J, Shi YB, Zorzano A, Palacín M.
    J Biol Chem; 1998 Dec 04; 273(49):32437-45. PubMed ID: 9829974
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  • 3. Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
    Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacín M, Aula P.
    Hum Mol Genet; 2000 Feb 12; 9(3):431-8. PubMed ID: 10655553
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  • 4. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
    Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacín M.
    Nat Genet; 1999 Mar 12; 21(3):293-6. PubMed ID: 10080182
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  • 5. y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
    Rotoli BM, Barilli A, Visigalli R, Ferrari F, Dall'Asta V.
    J Cell Mol Med; 2020 Jan 12; 24(1):921-929. PubMed ID: 31705628
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  • 6. Analysis of LPI-causing mutations on y+LAT1 function and localization.
    Rotoli BM, Barilli A, Ingoglia F, Visigalli R, Bianchi MG, Ferrari F, Martinelli D, Dionisi-Vici C, Dall'Asta V.
    Orphanet J Rare Dis; 2019 Mar 04; 14(1):63. PubMed ID: 30832686
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  • 7. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
    Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V.
    Eur J Hum Genet; 2009 Jan 04; 17(1):71-9. PubMed ID: 18716612
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  • 8. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
    Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Kadija Z, Rodi G, Mariani F, Ruzza ML, Luisetti M, Dall'Asta V.
    Orphanet J Rare Dis; 2010 Nov 26; 5():32. PubMed ID: 21110863
    [Abstract] [Full Text] [Related]

  • 9. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
    Sperandeo MP, Andria G, Sebastio G.
    Hum Mutat; 2008 Jan 26; 29(1):14-21. PubMed ID: 17764084
    [Abstract] [Full Text] [Related]

  • 10. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
    Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G.
    Hum Mutat; 2005 Apr 26; 25(4):410. PubMed ID: 15776427
    [Abstract] [Full Text] [Related]

  • 11. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
    Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G.
    Hum Mutat; 2002 Nov 26; 20(5):375-81. PubMed ID: 12402335
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  • 15. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
    Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G.
    Am J Physiol Cell Physiol; 2007 Jul 26; 293(1):C191-8. PubMed ID: 17376816
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