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

由 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
出版 2020

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

由 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
出版 2020

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

由 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
出版 2024

Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage

由 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
出版 2023

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

由 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
出版 2020

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

由 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
出版 2020

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

由 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
出版 2020

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

由 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
出版 2022

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

由 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
出版 2020

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

由 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
出版 2020