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Select item 82667581.

Structural basis of ω−3 fatty acid transport across the blood-brain barrier

Rosemary J. Cater, Geok-Lin Chua, Satchal K. Erramilli, James E. Keener, Brendon C. Choy, Piotr Tokarz, Cheen Fei Chin, Debra Q.Y. Quek, Brian Kloss, Joseph G. Pepe, Giacomo Parisi, Bernice H. Wong, Oliver B. Clarke, Michael T. Marty, Anthony A. Kossiakoff, George Khelashvili, David L. Silver, Filippo Mancia

Nature. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Nature. 2021 Jul; 595(7866): 315–319. Published online 2021 Jun 16. doi: 10.1038/s41586-021-03650-9

PMCID:: PMC8266758

Abstract Article PDF–7.6M

Select item 75761502.

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala, Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin, Sheikh Riazuddin, M. Chiara Manzini, Mariasavina Severino, Alvin Kuk, Hao Fan, Yalda Jamshidi, Mehran Beiraghi Toosi, Mohammad Doosti, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Elena Dadali, Galina Baydakova, Fedor Konovalov, Ekaterina Lozier, Emer O’Connor, Yasser Sabr, Abdullah Alfaifi, Farah Ashrafzadeh, Pasquale Striano, Federico Zara, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian, David L. Silver

Eur J Hum Genet. 2020 Nov; 28(11): 1509–1519. Published online 2020 Jun 22. doi: 10.1038/s41431-020-0669-x

PMCID:: PMC7576150

Abstract Article PDF–1.4M

Select item 75668813.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 71699834.

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 70129345.

Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy

María Sánchez-Campillo, María Ruiz-Palacios, Antonio J. Ruiz-Alcaraz, María Teresa Prieto-Sánchez, José Eliseo Blanco-Carnero, Matilde Zornoza, María José Ruiz-Pastor, Hans Demmelmair, Manuel Sánchez-Solís, Berthold Koletzko, Elvira Larqué

Front Endocrinol (Lausanne) 2020; 11: 38. Published online 2020 Feb 5. doi: 10.3389/fendo.2020.00038

PMCID:: PMC7012934

Abstract Article PDF–670K

Select item 69817466.

Decreased Blood Level of MFSD2a as a Potential Biomarker of Alzheimer’s Disease

María Sánchez-Campillo, María José Ruiz-Pastor, Antonio Gázquez, Juan Marín-Muñoz, Fuensanta Noguera-Perea, Antonio J. Ruiz-Alcaraz, Salvadora Manzanares-Sánchez, Carmen Antúnez, Elvira Larqué

Int J Mol Sci. 2020 Jan; 21(1): 70. Published online 2019 Dec 20. doi: 10.3390/ijms21010070

PMCID:: PMC6981746

Abstract Article PDF–1.7M

Select item 68145937.

The prognostic value of major facilitator superfamily domain-containing protein 2A in patients with hepatocellular carcinoma

Shan Xing, Jun Kan, Aishan Su, Qiao-Dan Liu, Kailin Wang, Xiuyu Cai, Jun Dong

Aging (Albany NY) 2019 Oct 15; 11(19): 8474–8483. Published online 2019 Oct 4. doi: 10.18632/aging.102333

PMCID:: PMC6814593

Abstract Article PDF–1.8M

Select item 68102758.

Zika virus degrades the ω-3 fatty acid transporter Mfsd2a in brain microvascular endothelial cells and impairs lipid homeostasis

Jia Zhou, Xiaojing Chi, Min Cheng, Xingyao Huang, Xiuying Liu, Jingjing Fan, Hua Xu, Tianli Lin, Lei Shi, Chengfeng Qin, Wei Yang

Sci Adv. 2019 Oct; 5(10): eaax7142. Published online 2019 Oct 23. doi: 10.1126/sciadv.aax7142

PMCID:: PMC6810275

Abstract Article PDF–6.1M

Select item 63350999.

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 617329310.

Relation of placental alkaline phosphatase expression in human term placenta to maternal and offspring fat mass

Birgit Hirschmugl, Sarah Crozier, Nina Matthews, Eva Kitzinger, Ingeborg Klymiuk, Hazel M Inskip, Nicholas C Harvey, Cyrus Cooper, Colin P Sibley, Jocelyn Glazier, Christian Wadsack, Keith M Godfrey, Gernot Desoye, Rohan M Lewis

Int J Obes (Lond) Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Int J Obes (Lond). 2018 Jun; 42(6): 1202–1210. Published online 2018 Jun 13. doi: 10.1038/s41366-018-0136-8

PMCID:: PMC6173293

Abstract Article PDF–1.2M

Select item 537173011.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 485027912.

Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A

Debra Q. Y. Quek, Long N. Nguyen, Hao Fan, David L. Silver

J Biol Chem. 2016 Apr 29; 291(18): 9383–9394. Published online 2016 Mar 4. doi: 10.1074/jbc.M116.721035

PMCID:: PMC4850279

Abstract Article PDF–2.8M

Select item 465582213.

Establishment and Dysfunction of the Blood-Brain Barrier

Zhen Zhao, Amy R. Nelson, Christer Betsholtz, Berislav V. Zlokovic

Cell. Author manuscript; available in PMC 2016 Nov 19.

Published in final edited form as: Cell. 2015 Nov 19; 163(5): 1064–1078. doi: 10.1016/j.cell.2015.10.067

PMCID:: PMC4655822

Abstract Article PDF–1.4M

Select item 454753114.

Inactivating Mutations in MFSD2A, Required for Omega-3 Fatty Acid Transport in Brain, Cause a Lethal Microcephaly Syndrome

Alicia Guemez-Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben-Omran, Naiara Akizu, Rasim Ozgur Rosti, Basak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave-Gassiot, Debra Q.Y. Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Gunel, Stacey Gabriel, Neil C. Chi, David L. Silver, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Nat Genet. 2015 Jul; 47(7): 809–813. Published online 2015 May 25. doi: 10.1038/ng.3311

PMCID:: PMC4547531

Abstract Article PDF–787K

Select item 413487115.

MSFD2A is critical for the formation and function of the blood brain barrier

Ayal Ben-Zvi, Baptiste Lacoste, Esther Kur, Benjamin J. Andreone, Yoav Mayshar, Han Yan, Chenghua Gu

Nature. Author manuscript; available in PMC 2014 Aug 17.

Published in final edited form as: Nature. 2014 May 22; 509(7501): 507–511. Published online 2014 May 14. doi: 10.1038/nature13324

PMCID:: PMC4134871

Abstract Article PDF–2.8M

Select item 374394616.

Generalization of Variants Identified by Genome-wide Association Studies for Electrocardiographic Traits in African Americans

Janina M. Jeff, Marylyn D. Ritchie, Joshua C. Denny, Abel N. Kho, Andrea H. Ramirez, David Crosslin, Loren Armstrong, Melissa A. Basford, Wendy A. Wolf, Jennifer A. Pacheco, Rex L. Chisholm, Dan M. Roden, M. Geoffrey Hayes, Dana C. Crawford

Ann Hum Genet. Author manuscript; available in PMC 2014 Jul 30.

Published in final edited form as: Ann Hum Genet. 2013 Jul; 77(4): 321–332. Published online 2013 Mar 28. doi: 10.1111/ahg.12023