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Select item 96749591.

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency

Megan L. Koleske, Gregory McInnes, Julia E. H. Brown, Neil Thomas, Keino Hutchinson, Marcus Y. Chin, Antoine Koehl, Michelle R. Arkin, Avner Schlessinger, Renata C. Gallagher, Yun S. Song, Russ B. Altman, Kathleen M. Giacomini

Proc Natl Acad Sci U S A. 2022 Nov 15; 119(46): e2210247119. Published online 2022 Nov 7. doi: 10.1073/pnas.2210247119

PMCID:: PMC9674959

Article PDF–2.0M

Select item 79483962.

Cholesterol stimulates the cellular uptake of L-carnitine by the carnitine/organic cation transporter novel 2 (OCTN2)

Lu Zhang, Ting Gui, Lara Console, Mariafrancesca Scalise, Cesare Indiveri, Stephanie Hausler, Gerd A. Kullak-Ublick, Zhibo Gai, Michele Visentin

J Biol Chem. 2021 Jan-Jun; 296: 100204. Published online 2021 Jan 5. doi: 10.1074/jbc.RA120.015175

PMCID:: PMC7948396

Article PDF–1.6M

Select item 69827043.

SLC22A5 (OCTN2) Carnitine Transporter—Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer

Barbara Juraszek, Katarzyna A. Nałęcz

Molecules. 2020 Jan; 25(1): 14. Published online 2019 Dec 19. doi: 10.3390/molecules25010014

PMCID:: PMC6982704

Article PDF–2.7M

Select item 67906044.

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

Sacha Ferdinandusse, Heleen te Brinke, Jos P.N. Ruiter, Janet Haasjes, Wendy Oostheim, Henk van Lenthe, Lodewijk IJlst, Merel S. Ebberink, Ronald J.A. Wanders, Frédéric M. Vaz, Hans R. Waterham

Hum Mutat. 2019 Oct; 40(10): 1899–1904. Published online 2019 Jul 3. doi: 10.1002/humu.23839

PMCID:: PMC6790604

Article PDF–475K

Select item 58307015.

Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter

Lara Console, Mariafrancesca Scalise, Annamaria Tonazzi, Nicola Giangregorio, Cesare Indiveri

Sci Rep. 2018; 8: 3758. Published online 2018 Feb 28. doi: 10.1038/s41598-018-22170-7

PMCID:: PMC5830701

Article PDF–1.3M

Select item 55395876.

Correlation between Apparent Substrate Affinity and OCT2 Transport Turnover

Alyscia Cory Severance, Philip J. Sandoval, Stephen H. Wright

J Pharmacol Exp Ther. 2017 Sep; 362(3): 405–412. Published online 2017 Sep. doi: 10.1124/jpet.117.242552

PMCID:: PMC5539587

Article PDF–870K

Select item 54773587.

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi, Connie R Bezzina

Eur J Hum Genet. 2017 Jun; 25(6): 783–787. Published online 2017 Mar 15. doi: 10.1038/ejhg.2017.22

PMCID:: PMC5477358

Article PDF–927K

Select item 49670418.

CARNITINE TRANSPORT AND FATTY ACID OXIDATION

Nicola Longo, Marta Frigeni, Marzia Pasquali

Biochim Biophys Acta. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Biochim Biophys Acta. 2016 Oct; 1863(10): 2422–2435. Published online 2016 Jan 29. doi: 10.1016/j.bbamcr.2016.01.023

PMCID:: PMC4967041

Article PDF–1.6M

Select item 47867949.

Identification of OCTN2 variants and their association with phenotypes of Crohn’s disease in a Korean population

Hyo Jin Park, Eun Suk Jung, Kyoung Ae Kong, Eun-Mi Park, Jae Hee Cheon, Ji Ha Choi

Sci Rep. 2016; 6: 22887. Published online 2016 Mar 11. doi: 10.1038/srep22887

PMCID:: PMC4786794

Article PDF–676K

Select item 448490310.

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Lise Aksglaede, Mette Christensen, Jess H. Olesen, Morten Duno, Rikke K. J. Olsen, Brage S. Andresen, David M. Hougaard, Allan M. Lund

JIMD Rep. 2015; 23: 67–70. Published online 2015 Mar 13. doi: 10.1007/8904_2015_428

PMCID:: PMC4484903

Article PDF–108K

Select item 436391111.

Transcriptional regulation of the human, porcine and bovine OCTN2 gene by PPARα via a conserved PPRE located in intron 1

Huidi Luo, Yuanqing Zhang, Huihui Guo, Li Zhang, Xi Li, Robert Ringseis, Gaiping Wen, Dequan Hui, Aihua Liang, Klaus Eder, Dongchang He

BMC Genet. 2014; 15: 90. Published online 2014 Sep 8. doi: 10.1186/s12863-014-0090-y

PMCID:: PMC4363911

Article PDF–718K

Select item 379781912.

Different Involvement of Promoter Methylation in the Expression of Organic Cation/Carnitine Transporter 2 (OCTN2) in Cancer Cell Lines

Qiang Qu, Jian Qu, Min Zhan, Lan-Xiang Wu, Yi-Wen Zhang, Xiao-Ya Lou, Li-Juan Fu, Hong-Hao Zhou

PLoS One. 2013; 8(10): e76474. Published online 2013 Oct 16. doi: 10.1371/journal.pone.0076474

PMCID:: PMC3797819

Article PDF–1.7M

Select item 346606213.

Inhibition of OCTN2-Mediated Transport of Carnitine by Etoposide

Chaoxin Hu, Cynthia S. Lancaster, Zhili Zuo, Shuiying Hu, Zhaoyuan Chen, Jeffrey E. Rubnitz, Sharyn D. Baker, Alex Sparreboom

Mol Cancer Ther. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Mol Cancer Ther. 2012 Apr; 11(4): 921–929. Published online 2012 Mar 2. doi: 10.1158/1535-7163.MCT-11-0980

PMCID:: PMC3466062

Article PDF–2.6M

Select item 341604014.

SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE)

Chunyu Wang, Ivan P. Uray, Abhijit Mazumdar, Julie Ann Mayer, Powel H. Brown

Breast Cancer Res Treat. Author manuscript; available in PMC 2012 Aug 10.

Published in final edited form as: Breast Cancer Res Treat. 2012 Jul; 134(1): 101–115. Published online 2012 Jan 3. doi: 10.1007/s10549-011-1925-0

PMCID:: PMC3416040

Article PDF–3.0M

Select item 324068515.

Genotype-Phenotype Correlation in Primary Carnitine Deficiency

Emily Cornforth Rose, Cristina Amat di San Filippo, Uzochi C. Ndukwe Erlingsson, Orly Ardon, Marzia Pasquali, Nicola Longo

Hum Mutat. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Hum Mutat. 2012 Jan; 33(1): 118–123. Published online 2011 Oct 11. doi: 10.1002/humu.21607

PMCID:: PMC3240685

Article PDF–381K

Select item 302607216.

GLYCOSYLATION OF THE OCTN2 CARNITINE TRANSPORTER: STUDY OF NATURAL MUTATIONS IDENTIFIED IN PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Cristina Amat di San Filippo, Orly Ardon, Nicola Longo

Biochim Biophys Acta. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Biochim Biophys Acta. 2011 Mar; 1812(3): 312–320. Published online 2010 Nov 29. doi: 10.1016/j.bbadis.2010.11.007

PMCID:: PMC3026072

Article PDF–2.8M

Select item 243021417.

CARDIOMYOPATHY AND CARNITINE DEFICIENCY

Cristina Amat di San Filippo, Matthew R. G. Taylor, Luisa Mestroni, Lorenzo D. Botto, Nicola Longo

Mol Genet Metab. Author manuscript; available in PMC 2009 Jun 1.

Published in final edited form as: Mol Genet Metab. 2008 Jun; 94(2): 162–166. Published online 2008 Mar 11. doi: 10.1016/j.ymgme.2008.02.002

PMCID:: PMC2430214

Article PDF–325K

Select item 225475918.

Contributions of Phosphorylation to Regulation of OCTN2 Uptake of Carnitine are Minimal in BeWo Cells

Erik Rytting, Kenneth L. Audus

Biochem Pharmacol. Author manuscript; available in PMC 2009 Feb 1.

Published in final edited form as: Biochem Pharmacol. 2008 Feb 1; 75(3): 745–751. Published online 2007 Sep 19. doi: 10.1016/j.bcp.2007.09.015

PMCID:: PMC2254759

Article PDF–1.0M

Select item 137723519.

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.

Y Shoji, A Koizumi, T Kayo, T Ohata, T Takahashi, K Harada, G Takada

Am J Hum Genet. 1998 Jul; 63(1): 101–108. doi: 10.1086/301911

PMCID:: PMC1377235

Summary PDF–723K

Select item 820890920.

Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men

Peter Meisel, Stefanie Pagels, Markus Grube, Gabriele Jedlitschky, Henry Völzke, Thomas Kocher

Clin Oral Investig. 2021; 25(2): 701–709. Published online 2020 Sep 22. doi: 10.1007/s00784-020-03594-w

Correction in:: Clin Oral Investig. 2021; 25(8): 5119.

PMCID:: PMC8208909

Article PDF–405K

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PMC Links for Gene (Select 6584) (66)
PMC
post-GPI attachment to proteins factor 2 isoform X13 [Homo sapiens]
post-GPI attachment to proteins factor 2 isoform X13 [Homo sapiens]
gi|2462524528|ref|XP_054224423.1|

Protein
LIVIN [Homo sapiens]
LIVIN [Homo sapiens]
gi|37182790|gb|AAQ89195.1|

Protein
Chromosome neighbors for GEO Profiles (Select 118326245) (20)
GEO Profiles
DCTN6 dynactin subunit 6 [Homo sapiens]
DCTN6 dynactin subunit 6 [Homo sapiens]
Gene ID:10671

Gene

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