Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

by Harel, Tamar, Quek, Debra QY, Wong, Bernice H, Cazenave-Gassiot, Amaury, Wenk, Markus R, Fan, Hao, Berger, Itai, Shmueli, Dorit, Shaag, Avraham, Silver, David L, Elpeleg, Orly, Edvardson, Shimon
Published 2020

Mfsd2a Is a Transporter for the Essential omega-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development

by Wong, Bernice H, Chan, Jia Pei, Cazenave-Gassiot, Amaury, Poh, Rebecca W, Foo, Juat Chin, Galam, Dwight LA, Ghosh, Sujoy, Nguyen, Long N, Barathi, Veluchamy A, Yeo, Sia W, Luu, Chi D, Wenk, Markus R, Silver, David L
Published 2020

Mfsd2a-mediated lysolipid transport is important for renal recovery after acute kidney injury

by Loke, Randy YJ, Chin, Cheen Fei, Liang, Gao, Wong, Bernice H, Galam, Dwight LA, Tan, Bryan C, Chua, Geok-Lin, Minegishi, Shintaro, Morisawa, Norihiko, Sidorov, Iulia, Heijs, Bram, Titze, Jens, Wenk, Markus R, Torta, Federico, Silver, David L
Published 2024

The Lysophosphatidylcholine Transporter MFSD2A Is Essential for CD8(+) Memory T Cell Maintenance and Secondary Response to Infection

by Piccirillo, Ann R, Hyzny, Eric J, Beppu, Lisa Y, Menk, Ashley V, Wallace, Callen T, Hawse, William F, Buechel, Heather M, Wong, Bernice H, Foo, Juat Chin, Cazenave-Gassiot, Amaury, Wenk, Markus R, Delgoffe, Greg M, Watkins, Simon C, Silver, David L, D'Cruz, Louise M
Published 2020

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

by Guemez-Gamboa, Alicia, Nguyen, Long N, Yang, Hongbo, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, Keith K, Cazenave-Gassiot, Amaury, Quek, Debra QY, Wong, Bernice H, Tan, Bryan C, Wenk, Markus R, Gunel, Murat, Gabriel, Stacey, Chi, Neil C, Silver, David L, Gleeson, Joseph G
Published 2020