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Items: 1 to 20 of 161

1.
2.

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
3.

Phenotype and genotype variation in primary carnitine deficiency.

Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N.

Genet Med. 2001 Nov-Dec;3(6):387-92.

PMID:
11715001
4.

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.

5.

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

Amat di San Filippo C, Pasquali M, Longo N.

Hum Mutat. 2006 Jun;27(6):513-23.

PMID:
16652335
6.

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
7.

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
8.

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
9.

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
10.

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

Dobrowolski SF, McKinney JT, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N.

Hum Mutat. 2005 Mar;25(3):306-13.

PMID:
15714519
11.

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
12.

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.

13.

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.

14.

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
15.

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.

PMID:
12204000
17.

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
18.

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;31(8):E1632-51. doi: 10.1002/humu.21311.

PMID:
20574985
19.

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
20.

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N.

J Inherit Metab Dis. 2004;27(6):778-80.

PMID:
15617188

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