Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 197

1.

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.

PMID:
9916797
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.

PMID:
10612840
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. Review.

PMID:
11509010
4.

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.

PMID:
9837751
5.

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. Erratum in: Hum Mol Genet 1999 May;8(5):943.

PMID:
10072434
6.

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ.

Hum Genet. 1999 Jul-Aug;105(1-2):157-61.

PMID:
10480371
7.

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.

PMID:
10679939
8.

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.

9.
10.

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 2;261(2):484-7.

PMID:
10425211
12.

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.

PMID:
12210323
13.

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.

PMID:
9826541
14.

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.

PMID:
12408185
15.

Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.

Melegh B, Bene J, Mogyorósy G, Havasi V, Komlósi K, Pajor L, Oláh E, Kispál G, Sumegi B, Méhes K.

Am J Med Genet A. 2004 Dec 1;131(2):121-6.

PMID:
15487009
16.

Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.

Amat di San Filippo C, Wang Y, Longo N.

J Biol Chem. 2003 Nov 28;278(48):47776-84. Epub 2003 Sep 23.

17.

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.

PMID:
12175785
18.

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 2;96(5):2356-60.

19.

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.

Wang Y, Meadows TA, Longo N.

J Biol Chem. 2000 Jul 7;275(27):20782-6.

20.

Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.

Amat di San Filippo C, Longo N.

J Biol Chem. 2004 Feb 20;279(8):7247-53. Epub 2003 Dec 9.

Supplemental Content

Support Center