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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

Abstract Article PDF–2.0M

Select item 91902332.

Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier

Raymond K. Hau, Robert R. Klein, Stephen H. Wright, Nathan J. Cherrington

Drug Metab Dispos. 2022 Jun; 50(6): 770–780. Published online 2022 Jun. doi: 10.1124/dmd.121.000748

PMCID:: PMC9190233

Abstract Article PDF–2.8M

Select item 87144823.

山东省济宁地区新生儿脂肪酸氧化代谢病筛查及随访分析

Chiju YANG, Caihong SHI, Cheng ZHOU, Qiuhua WAN, Yanbin ZHOU, Xigui CHEN, Xianlian JIN, Chenggang HUANG, Peng XU

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 472–480. Chinese. doi: 10.3724/zdxbyxb-2021-0259

PMCID:: PMC8714482

Abstract Article PDF–2.2M

Select item 82089094.

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

Abstract Article PDF–405K

Select item 81650305.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 79483966.

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

Abstract Article PDF–1.6M

Select item 78392347.

Deorphaning a Solute Carrier 22 family member, SLC22A15, through functional genomic studies

Sook Wah Yee, Dina Buitrago, Adrian Stecula, Huy X. Ngo, Huan-Chieh Chien, Ling Zou, Megan L. Koleske, Kathleen M. Giacomini

FASEB J. Author manuscript; available in PMC 2021 Jan 27.

Published in final edited form as: FASEB J. 2020 Dec; 34(12): 15734–15752. Published online 2020 Oct 30. doi: 10.1096/fj.202001497R

PMCID:: PMC7839234

Abstract Article PDF–1.2M

Select item 71699838.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 69827049.

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

Abstract Article PDF–2.7M

Select item 679060410.

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

Abstract Article PDF–475K

Select item 633509911.

Blood-Brain Barrier: From Physiology to Disease and Back

Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic

Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017

PMCID:: PMC6335099

Abstract Article

Select item 583070112.

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

Abstract Article PDF–1.3M

Select item 553958713.

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

Abstract Article PDF–870K

Select item 553161114.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 547735815.

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

Abstract Article PDF–927K

Select item 496704116.

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