Associated Papers
Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.
Martinez-Molledo M et al.
Nature Structural & Molecular Biology, 2022
Structure and mechanism of blood-brain-barrier lipid transporter MFSD2A.
Wood CAP et al.
Nature, 2021
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
Scala M et al.
European Journal of Human Genetics : Ejhg, 2020
Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
Wong BH et al.
Advances in Experimental Medicine and Biology, 2020
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
Harel T et al.
Neurogenetics, 2018
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A.
Quek DQ et al.
The Journal of Biological Chemistry, 2016
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V et al.
Nature Genetics, 2015
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