Article

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis

2024-10-11

Abstract excerpt

<title>Abstract</title> <p>Background Seipin is a protein encoded by the <italic>BSCL2</italic> gene in humans and <italic>SEI1</italic> gene in yeast, forming an Endoplasmic Reticulum (ER)-bound homo-oligomer. This oligomer is crucial in targeting ER-lipid droplet (LD) contact sites, facilitating the delivery of triacylglycerol (TG) to nascent LDs. Mutations in BSCL2, particularly N88S and S90L, lead to seipino...

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Literature Corpus work: 8d7e4db1-be35-5350-9453-8b5c5d724ae2
DOI: 10.21203/rs.3.rs-5224286/v1

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