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Results: 1 to 20 of 372

1.

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]
2.

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. doi: 10.1016/j.ymgme.2008.02.002. Epub 2008 Mar 11.

PMID:
18337137
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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]
4.

Genotype-phenotype correlation in primary carnitine deficiency.

Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N.

Hum Mutat. 2012 Jan;33(1):118-23. doi: 10.1002/humu.21607. Epub 2011 Oct 11.

PMID:
21922592
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
6.

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]
7.

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]
8.

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]
9.

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.

PMID:
15365988
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
13.

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]
14.

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
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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
14665638
[PubMed - indexed for MEDLINE]
Free Article
17.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PMID:
15300847
[PubMed - indexed for MEDLINE]
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;70(5):1602-11. Epub 2006 Aug 24.

PMID:
16931768
[PubMed - indexed for MEDLINE]
Free Article
19.

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
20.

Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.

Filippo CA, Ardon O, Longo N.

Biochim Biophys Acta. 2011 Mar;1812(3):312-20. doi: 10.1016/j.bbadis.2010.11.007. Epub 2010 Nov 29.

PMID:
21126579
[PubMed - indexed for MEDLINE]
Free PMC Article

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