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Journal Abstract Search

348 related items for PubMed ID: 9916797

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  • 2. Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
    Mayatepek E, Nezu J, Tamai I, Oku A, Katsura M, Shimane M, Tsuji A.
    Hum Mutat; 2000 Jan; 15(1):118. PubMed ID: 10612840
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  • 5. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
    Wang Y, Taroni F, Garavaglia B, Longo N.
    Hum Mutat; 2000 Nov; 16(5):401-7. PubMed ID: 11058897
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  • 8. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene.
    Lamhonwah AM, Tein I.
    Biochem Biophys Res Commun; 1998 Nov 18; 252(2):396-401. PubMed ID: 9826541
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  • 9. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
    Tang NL, Hwu WL, Chan RT, Law LK, Fung LM, Zhang WM.
    Hum Mutat; 2002 Sep 18; 20(3):232. PubMed ID: 12204000
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  • 11. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
    Wang Y, Ye J, Ganapathy V, Longo N.
    Proc Natl Acad Sci U S A; 1999 Mar 02; 96(5):2356-60. PubMed ID: 10051646
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  • 14. GFP-Human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect.
    Lamhonwah AM, Tein I.
    Biochem Biophys Res Commun; 1999 Nov 02; 264(3):909-14. PubMed ID: 10544029
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  • 15. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
    Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.
    Hum Mutat; 2010 Aug 02; 31(8):E1632-51. PubMed ID: 20574985
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  • 17. Pharmacological rescue of carnitine transport in primary carnitine deficiency.
    Amat di San Filippo C, Pasquali M, Longo N.
    Hum Mutat; 2006 Jun 02; 27(6):513-23. PubMed ID: 16652335
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  • 18. Organic cation/carnitine transporter OCTN2 (Slc22a5) is responsible for carnitine transport across apical membranes of small intestinal epithelial cells in mouse.
    Kato Y, Sugiura M, Sugiura T, Wakayama T, Kubo Y, Kobayashi D, Sai Y, Tamai I, Iseki S, Tsuji A.
    Mol Pharmacol; 2006 Sep 02; 70(3):829-37. PubMed ID: 16754783
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  • 19. A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse.
    Lu Km, Nishimori H, Nakamura Y, Shima K, Kuwajima M.
    Biochem Biophys Res Commun; 1998 Nov 27; 252(3):590-4. PubMed ID: 9837751
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  • 20. 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 27; 21(3):293-6. PubMed ID: 10080182
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