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

High-Density Lipoprotein 3 Cholesterol and Primary Open-Angle Glaucoma Metabolomics and Mendelian Randomization Analyses

by Nusinovici, Simon, Li, Hengtong, Thakur, Sahil, Baskaran, Mani, Tham, Yih-Chung, Zhou, Lei, Sabanayagam, Charumathi, Aung, Tin, Silver, David, Fan, Qiao, Wong, Tien Yin, Crowston, Jonathan, Cheng, Ching-Yu
Published 2023

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

Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage

by He, Menglan, Kuk, Alvin CY, Ding, Mei, Chin, Cheen Fei, Galam, Dwight LA, Nah, Jie Min, Tan, Bryan C, Yeo, Hui Li, Chua, Geok Lin, Benke, Peter I, Wenk, Markus R, Ho, Lena, Torta, Federico, Silver, David L
Published 2023

Mfsd2b is essential for the sphingosine-1-phosphate export in erythrocytes and platelets

by Vu, Thiet M, Ishizu, Ayako-Nakamura, Foo, Juat Chin, Xiu, Ru Toh, Zhang, Fangyu, Whee, Ding Ming, Torta, Federico, Cazenave-Gassiot, Amaury, Matsumura, Takayoshi, Kim, Sangho, Toh, Sue-Anne ES, Suda, Toshio, Silver, David L, Wenk, Markus R, Nguyen, Long N
Published 2020

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

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

by Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra QY, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N, Rich, Phil, Patton, Michael A, Warner, Thomas T, Silver, David L, Crosby, Andrew H
Published 2020

Destabilization of β cell FIT2 by saturated fatty acids alter lipid droplet numbers and contribute to ER stress and diabetes

by Zheng, Xiaofeng, Ho, Calvin Qing Wei, Chua, Minni, Stelmashenko, Olga, Yeo, Xin Yi, Muralidharan, Sneha, Torta, Federico, Chew, Elaine Guo Yan, Lian, Michelle Mulan, Foo, Jia Nee, Jung, Sangyong, Wong, Sunny Hei, Tan, Nguan Soon, Tong, Nanwei, Rutter, Guy A., Wenk, Markus R., Silver, David L., Berggren, Per-Olof, Ali, Yusuf
Published 2022

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

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

by Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Fernandez-Murray, J Pedro, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H
Published 2020