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

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

Abstract Background Seipin is a protein encoded by the BSCL2 gene in humans and SEI1 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....

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Bibliographic Details
Main Authors: Mariana O. Ribeiro, Mafalda Oliveira, Verónica Nogueira, Vítor Costa, Vitor Teixeira
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Cell Communication and Signaling
Subjects:
Lipid droplet
Seipin
Misfolding
Seipinopathy
Lipidopathy
Proteinopathy
Online Access:https://doi.org/10.1186/s12964-024-02007-9
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