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193 related items for PubMed ID: 10612840

  • 1. 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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  • 3. Carnitine transport by organic cation transporters and systemic carnitine deficiency.
    Lahjouji K, Mitchell GA, Qureshi IA.
    Mol Genet Metab; 2001 Aug; 73(4):287-97. PubMed ID: 11509010
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  • 4. 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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  • 5. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
    Wang Y, Kelly MA, Cowan TM, Longo N.
    Hum Mutat; 2000 Nov; 15(3):238-45. PubMed ID: 10679939
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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; 20(3):232. PubMed ID: 12204000
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  • 10. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
    Lamhonwah AM, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, Besley GT, Onizuka R, De Meirleir LJ, Cvitanovic-Sojat L, Baric I, Dionisi-Vici C, Fumic K, Maradin M, Tein I.
    Am J Med Genet; 2002 Aug 15; 111(3):271-84. PubMed ID: 12210323
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  • 11. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
    Tamai I.
    Biopharm Drug Dispos; 2013 Jan 15; 34(1):29-44. PubMed ID: 22952014
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  • 12. 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 15; 31(8):E1632-51. PubMed ID: 20574985
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  • 14. 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 15; 8(4):655-60. PubMed ID: 10072434
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  • 15. 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 15; 302(3):1286-94. PubMed ID: 12183691
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  • 16. 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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  • 17. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.
    Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS.
    J Inherit Metab Dis; 2002 Sep 02; 25(5):363-9. PubMed ID: 12408185
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  • 18. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
    Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM.
    Mol Pharmacol; 2006 Nov 02; 70(5):1602-11. PubMed ID: 16931768
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  • 19. Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.
    Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V.
    J Pharmacol Exp Ther; 1999 Sep 02; 290(3):1482-92. PubMed ID: 10454528
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  • 20. 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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