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3. Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2. Ohashi R; Tamai I; Nezu Ji J; Nikaido H; Hashimoto N; Oku A; Sai Y; Shimane M; Tsuji A Mol Pharmacol; 2001 Feb; 59(2):358-66. PubMed ID: 11160873 [TBL] [Abstract][Full Text] [Related]
4. Carnitine transport: pathophysiology and metabolism of known molecular defects. Tein I J Inherit Metab Dis; 2003; 26(2-3):147-69. PubMed ID: 12889657 [TBL] [Abstract][Full Text] [Related]
5. 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; 96(5):2356-60. PubMed ID: 10051646 [TBL] [Abstract][Full Text] [Related]
6. A heterozygote phenotype is present in the jvs +/- mutant mouse livers. Lahjouji K; Elimrani I; Wu J; Mitchell GA; Qureshi IA Mol Genet Metab; 2002 May; 76(1):76-80. PubMed ID: 12175785 [TBL] [Abstract][Full Text] [Related]
7. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21). Tamai I Biopharm Drug Dispos; 2013 Jan; 34(1):29-44. PubMed ID: 22952014 [TBL] [Abstract][Full Text] [Related]
8. Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. Seth P; Wu X; Huang W; Leibach FH; Ganapathy V J Biol Chem; 1999 Nov; 274(47):33388-92. PubMed ID: 10559218 [TBL] [Abstract][Full Text] [Related]
9. 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; 252(3):590-4. PubMed ID: 9837751 [TBL] [Abstract][Full Text] [Related]
10. [The human OCTN2 carnitine transporter and its mutations]. Melegh B Orv Hetil; 2004 Mar; 145(13):679-86. PubMed ID: 15125318 [TBL] [Abstract][Full Text] [Related]
11. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Koizumi A; Nozaki J; Ohura T; Kayo T; Wada Y; Nezu J; Ohashi R; Tamai I; Shoji Y; Takada G; Kibira S; Matsuishi T; Tsuji A Hum Mol Genet; 1999 Nov; 8(12):2247-54. PubMed ID: 10545605 [TBL] [Abstract][Full Text] [Related]
12. 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; 8(4):655-60. PubMed ID: 10072434 [TBL] [Abstract][Full Text] [Related]
13. Cardiomyopathy and carnitine deficiency. Amat di San Filippo C; Taylor MR; Mestroni L; Botto LD; Longo N Mol Genet Metab; 2008 Jun; 94(2):162-6. PubMed ID: 18337137 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
15. 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; 21(1):91-4. PubMed ID: 9916797 [TBL] [Abstract][Full Text] [Related]
16. Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. Spiekerkoetter U; Huener G; Baykal T; Demirkol M; Duran M; Wanders R; Nezu J; Mayatepek E J Inherit Metab Dis; 2003; 26(6):613-5. PubMed ID: 14605509 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]
18. 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; 25(5):363-9. PubMed ID: 12408185 [TBL] [Abstract][Full Text] [Related]
19. Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency. Wang Y; Meadows TA; Longo N J Biol Chem; 2000 Jul; 275(27):20782-6. PubMed ID: 10783384 [TBL] [Abstract][Full Text] [Related]
20. 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 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]