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
Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.
Ha HT et al.
Jci Insight, 2024
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