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Titolo:
Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2
Autore:
Brooks, H; Krahenbuhl, S;
Indirizzi:
Univ Hosp, Div Clin Pharmacol & Toxicol, CH-4031 Basel, Switzerland Univ Hosp Basel Switzerland CH-4031 Toxicol, CH-4031 Basel, Switzerland
Titolo Testata:
FEBS LETTERS
fascicolo: 2, volume: 508, anno: 2001,
pagine: 175 - 180
SICI:
0014-5793(20011116)508:2<175:IATDOT>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
ORGANIC CATION/CARNITINE TRANSPORTER; PLASMA-MEMBRANE VESICLES; MISSENSE MUTATION; DEFICIENCY; GENE; SPERMATOZOA; MATURATION; CELLS;
Keywords:
systemic carnitine deficiency; real time quantitative PCR (TaqMan); splice variants; organic cation transporter; carnitine;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Krahenbuhl, S Univ Hosp, Div Clin Pharmacol & Toxicol, Petersgraben 4, CH-4031 Basel, Switzerland Univ Hosp Petersgraben 4 Basel Switzerland CH-4031tzerland
Citazione:
H. Brooks e S. Krahenbuhl, "Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2", FEBS LETTER, 508(2), 2001, pp. 175-180

Abstract

In this paper we show that the only known Na+ dependent transporter of carnitine in mammals, organic cation transporter number 2 (OCTN2), is subject to differential splicing. Cloning of OCTN2 in different rat tissues identified two splicing variants. We have developed a real time quantitative polymerase chain reaction method for quantification of these splice variants. Both splice variants could be detected in all tissues examined with a relative abundance of 0.1-1%, of the full length transcript. We also draw attention to the previously described mutations in clinical examples of primary carnitine deficiency in humans where the described mutations appear to be those of a splicing or mis-splicing event. (C) 2001 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 14:50:14