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Journal Abstract Search

145 related items for PubMed ID: 12402335

  • 1. 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; 20(5):375-81. PubMed ID: 12402335
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  • 3. 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; 25(4):410. PubMed ID: 15776427
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  • 7. Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
    Toivonen M, Mykkänen J, Aula P, Simell O, Savontaus ML, Huoponen K.
    Biochem Biophys Res Commun; 2002 Mar 15; 291(5):1173-9. PubMed ID: 11883940
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  • 12. 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 15; 13(5):628-34. PubMed ID: 15756301
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  • 13. Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
    Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Näntö-Salonen K, Hietala M, Simell O, Mykkänen J.
    Mol Genet Metab; 2012 Mar 15; 105(3):408-15. PubMed ID: 22221392
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  • 14. Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
    Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-Vici C, Martinelli D, Goffredo BM, Font-Llitjós M, Mariani F, Luisetti M, Dall'Asta V.
    Mol Genet Metab; 2012 Apr 15; 105(4):585-9. PubMed ID: 22325938
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  • 17. 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
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  • 18. INFgamma stimulates arginine transport through system y+L in human monocytes.
    Rotoli BM, Bussolati O, Sala R, Barilli A, Talarico E, Gazzola GC, Dall'Asta V.
    FEBS Lett; 2004 Jul 30; 571(1-3):177-81. PubMed ID: 15280038
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  • 19. Multiple pathways for cationic amino acid transport in rat seminiferous tubule cells.
    Cérec V, Piquet-Pellorce C, Aly HA, Touzalin AM, Jégou B, Bauché F.
    Biol Reprod; 2007 Feb 30; 76(2):241-9. PubMed ID: 17065601
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