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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2024

Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage

بواسطة 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
منشور في 2023

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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2022

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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2020