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Journal Abstract Search

268 related items for PubMed ID: 10679939

  • 1. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
    Wang Y, Kelly MA, Cowan TM, Longo N.
    Hum Mutat; 2000; 15(3):238-45. PubMed ID: 10679939
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  • 2. 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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  • 3. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
    Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW.
    Biochem Biophys Res Commun; 1999 Aug 02; 261(2):484-7. PubMed ID: 10425211
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  • 5. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
    Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A.
    Nat Genet; 1999 Jan 02; 21(1):91-4. PubMed ID: 9916797
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  • 9. 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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  • 11. 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 02; 20(3):232. PubMed ID: 12204000
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  • 14. Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein.
    Ohashi R, Tamai I, Inano A, Katsura M, Sai Y, Nezu J, Tsuji A.
    J Pharmacol Exp Ther; 2002 Sep 02; 302(3):1286-94. PubMed ID: 12183691
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  • 17. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
    Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM.
    Hum Mol Genet; 1999 Apr 02; 8(4):655-60. PubMed ID: 10072434
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