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Journal Abstract Search

224 related items for PubMed ID: 31705628

  • 1.
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  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 13(5):628-34. PubMed ID: 15756301
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 105(4):585-9. PubMed ID: 22325938
    [Abstract] [Full Text] [Related]

  • 6. 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 04; 20(5):375-81. PubMed ID: 12402335
    [Abstract] [Full Text] [Related]

  • 7. Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.
    Dall'Asta V, Bussolati O, Sala R, Rotoli BM, Sebastio G, Sperandeo MP, Andria G, Gazzola GC.
    Am J Physiol Cell Physiol; 2000 Dec 04; 279(6):C1829-37. PubMed ID: 11078698
    [Abstract] [Full Text] [Related]

  • 8.
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  • 9. 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 04; 293(1):C191-8. PubMed ID: 17376816
    [Abstract] [Full Text] [Related]

  • 10. The transport of cationic amino acids in human airway cells: expression of system y+L activity and transepithelial delivery of NOS inhibitors.
    Rotoli BM, Bussolati O, Sala R, Gazzola GC, Dall'Asta V.
    FASEB J; 2005 May 04; 19(7):810-2. PubMed ID: 15746185
    [Abstract] [Full Text] [Related]

  • 11.
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  • 12. 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 04; 21(3):293-6. PubMed ID: 10080182
    [Abstract] [Full Text] [Related]

  • 13. Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
    IJzermans T, van der Meijden W, Hoeks M, Huigen M, Rennings A, Nijenhuis T.
    Am J Kidney Dis; 2023 Apr 04; 81(4):493-496. PubMed ID: 36223829
    [Abstract] [Full Text] [Related]

  • 14. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
    Stroup BM, Marom R, Li X, Hsu CW, Chang CY, Truong LD, Dawson B, Grafe I, Chen Y, Jiang MM, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, Christiansen AE, Seavitt JR, Dickinson ME, Kheradmand F, Heaney JD, Lee B, Burrage LC.
    Hum Mol Genet; 2020 Aug 03; 29(13):2171-2184. PubMed ID: 32504080
    [Abstract] [Full Text] [Related]

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  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
    Rotoli BM, Barilli A, Visigalli R, Ingoglia F, Milioli M, Di Lascia M, Riccardi B, Puccini P, Dall'Asta V.
    Front Immunol; 2018 Feb 12; 9():508. PubMed ID: 29616026
    [Abstract] [Full Text] [Related]

  • 18. Arginine transport in human erythroid cells: discrimination of CAT1 and 4F2hc/y+LAT2 roles.
    Rotoli BM, Closs EI, Barilli A, Visigalli R, Simon A, Habermeier A, Bianchi N, Gambari R, Gazzola GC, Bussolati O, Dall'Asta V.
    Pflugers Arch; 2009 Oct 12; 458(6):1163-73. PubMed ID: 19562367
    [Abstract] [Full Text] [Related]

  • 19. Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
    Sebastio G, Sperandeo MP, Andria G.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):54-62. PubMed ID: 21308987
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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