biostudies-literatureRibeiro MOFundação para a Ciência e a TecnologiaEMBO10https://www.ebi.ac.uk/biostudies/studies/S-EPMC11706183biostudies-literatureUnknown23(1)<h4>Background</h4>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 cellular dysfunctions.<h4>Methods</h4>Quantitative untargeted mass spectrometric proteomic and lipidomic analyses were conducted to examine changes in protein and lipid abundance in wild-type (WT) versus N88S seipin-expressing mutant cells. Differentially expressed proteins weCell communication and signaling : CCSN88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.PMC117061832022.02305.PTDCSEG9890Ribeiro MOOliveira MCosta VNogueira VTeixeira VfalseN88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.<h4>Background</h4>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 cellular dysfunctions.<h4>Methods</h4>Quantitative untargeted mass spectrometric proteomic and lipidomic analyses were conducted to examine changes in protein and lipid abundance in wild-type (WT) versus N88S seipin-expressing mutant cells. Differentially expressed proteins we2025-01-01T00:00:00Z2025 Jan2026-06-02T07:07:08.797Z2025-04-04T21:49:07.751ZS-EPMC117061833977352310.1186/s12964-024-02007-9