{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ribeiro MO"],"funding":["Fundação para a Ciência e a Tecnologia","EMBO"],"pagination":["10"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11706183"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(1)"],"pubmed_abstract":["<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 we"],"journal":["Cell communication and signaling : CCS"],"pubmed_title":["N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis."],"pmcid":["PMC11706183"],"funding_grant_id":["2022.02305.PTDC","SEG9890"],"pubmed_authors":["Ribeiro MO","Oliveira M","Costa V","Nogueira V","Teixeira V"],"additional_accession":[]},"is_claimable":false,"name":"N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.","description":"<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 we","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-02T07:07:08.797Z","creation":"2025-04-04T21:49:07.751Z"},"accession":"S-EPMC11706183","cross_references":{"pubmed":["39773523"],"doi":["10.1186/s12964-024-02007-9"]}}