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Article

Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S Seipinopathy.

Cells - 24 Feb 2026

Moreira Vítor, van Roermund Carlo W T, Costa Vítor, Teixeira Vitor

Abstract excerpt

The N88S mutation in human seipin causes a dominant motor neuron disease marked by ER stress and inclusion body formation, lipid imbalance, and oxidative damage. However, the metabolic mechanisms connecting these defects remain poorly understood. Previous proteomic profiling in our yeast model of N88S human seipinopathy revealed decreased protein levels of enzymes involved in the tricarboxylic acid cycle, fatty...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41827830
DOI: 10.3390/cells15050395
PMCID: PMC12984136

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