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Items: 6

1.
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
AbstractArticlePDF–1.4M
2.
The lysophosphatidylcholine transporter, MFSD2A, is essential for CD8+ memory T cell maintenance and secondary response to infection
Ann R. Piccirillo, Eric J. Hyzny, Lisa Y. Beppu, Ashley V. Menk, Callen Wallace, William F. Hawse, Heather M. Buechel, Bernice H. Wong, Juat Chin Foo, Amaury Cazenave-Gassiot, Markus R. Wenk, Greg M. Delgoffe, Simon Watkins, David L. Silver, Louise M. D’Cruz
J Immunol. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: J Immunol. 2019 Jul 1; 203(1): 117–126. Published online 2019 May 24. doi: 10.4049/jimmunol.1801585
PMCID:
PMC6581627
AbstractArticlePDF–1.4M
3.
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
AbstractArticlePDF–787K
4.
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
AbstractArticlePDF–2.8M
5.
A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin
Jan H. Reiling, Clary B. Clish, Jan E. Carette, Malini Varadarajan, Thijn R. Brummelkamp, David M. Sabatini
Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29): 11756–11765. Published online 2011 Jun 15. doi: 10.1073/pnas.1018098108
PMCID:
PMC3141996
AbstractArticlePDF–1.3M
6.
Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis
Martin Angers, Marc Uldry, Dong Kong, Jeffrey M. Gimble, Anton M. Jetten
Biochem J. Author manuscript; available in PMC 2008 Dec 15.
Published in final edited form as: Biochem J. 2008 Dec 15; 416(3): 347–355. doi: 10.1042/BJ20080165
PMCID:
PMC2587516
AbstractArticlePDF–2.2M

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