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Results: 1 to 20 of 165

1.

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
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
10051646
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
11058897
[PubMed - indexed for MEDLINE]
7.
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
Free Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
14506273
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.
20.

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
[PubMed - indexed for MEDLINE]

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