2024
DOI: 10.21203/rs.3.rs-5224286/v1
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N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis

Mariana O. Ribeiro,
Mafalda Oliveira,
Verónica Nogueira
et al.

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. Mutations in BSCL2, particularly N88S and S90L, lead to seipinopathies, which correspond to a cohort of motor neuron diseases (MNDs) characterized by the accumulation of misfolded N88S seipin into inclusion bodies (IBs) and… Show more

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