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Items: 1 to 20 of 171

1.

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.

2.

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.

3.

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
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.

5.

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.

6.

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. doi: 10.1002/bdd.1816. Epub 2012 Oct 14. Review.

PMID:
22952014
7.

Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.

Frigeni M, Iacobazzi F, Yin X, Longo N.

Biochim Biophys Acta. 2016 Jun;1860(6):1334-42. doi: 10.1016/j.bbagen.2016.03.021. Epub 2016 Mar 16.

9.

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
10.

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.

11.

OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2.

Maekawa S, Mori D, Nishiya T, Takikawa O, Horinouchi T, Nishimoto A, Kajita E, Miwa S.

Biochim Biophys Acta. 2007 Jun;1773(6):1000-6. Epub 2007 Apr 19.

12.

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Han L, Wang F, Wang Y, Ye J, Qiu W, Zhang H, Gao X, Gong Z, Gu X.

Eur J Med Genet. 2014 Oct;57(10):571-5. doi: 10.1016/j.ejmg.2014.08.001. Epub 2014 Aug 13.

PMID:
25132046
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. doi: 10.1016/j.ymgme.2008.02.002. Epub 2008 Mar 11.

14.

Functional regions of organic cation/carnitine transporter OCTN2 (SLC22A5): roles in carnitine recognition.

Inano A, Sai Y, Kato Y, Tamai I, Ishiguro M, Tsuji A.

Drug Metab Pharmacokinet. 2004 Jun;19(3):180-9.

15.

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.

16.

Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein.

Ohashi R, Tamai I, Inano A, Katsura M, Sai Y, Nezu J, Tsuji A.

J Pharmacol Exp Ther. 2002 Sep;302(3):1286-94.

17.

Carnitine transport and fatty acid oxidation.

Longo N, Frigeni M, Pasquali M.

Biochim Biophys Acta. 2016 Oct;1863(10):2422-35. doi: 10.1016/j.bbamcr.2016.01.023. Epub 2016 Jan 29. Review.

18.

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.

Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A.

J Biol Chem. 1998 Aug 7;273(32):20378-82.

19.

Caveolin-1--a novel interacting partner of organic cation/carnitine transporter (Octn2): effect of protein kinase C on this interaction in rat astrocytes.

Czeredys M, Samluk Ł, Michalec K, Tułodziecka K, Skowronek K, Nałęcz KA.

PLoS One. 2013 Dec 13;8(12):e82105. doi: 10.1371/journal.pone.0082105. eCollection 2013.

20.

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

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