Associated Papers
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.
He M et al.
The Journal of Clinical Investigation, 2025
40608416 (PubMed )
Supplement: jci-135-193099-s041.pdf
Blood-derived lysophospholipid sustains hepatic phospholipids and fat storage necessary for hepatoprotection in overnutrition.
Chin CF et al.
The Journal of Clinical Investigation, 2023
Structural basis of omega-3 fatty acid transport across the blood-brain barrier.
Cater RJ 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
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
Harel T et al.
Neurogenetics, 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
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