Article

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

2026-02-12

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. Yet the metabolic mechanisms connecting these defects remain poorly understood. Previous proteomic profiling revealed decreased protein levels of enzymes involved in the tricarboxylic acid cycle, fatty acid and carboxylic acid metabolism, and the glyoxyla...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 73725554-bf1f-5216-be0f-0067eb25fbcd
DOI: 10.20944/preprints202602.0972.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S SeipinopathyDOI 10.20944/preprints202602.0972.v1Read

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

Peroxisomes in brain development and function.Semantic proximity Read

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasisSemantic proximity Read

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.Semantic proximity Read

Elucidation of the pathogenesis of peroxisome biogenesis disorders (PBDs): From molecular mechanisms to diagnosis-therapy linkages and AI-assisted potential.Semantic proximity Read

Lipid metabolic pathways converge in motor neuron degenerative diseasesSemantic proximity Read

The TIM22 complex regulates mitochondrial one-carbon metabolism by mediating the import of SideroflexinsSemantic proximity Read

Lipid mediated ER-stress contributes to the pathogenesis of mitochondrial myopathiesSemantic proximity Read

Comparative Enzymatic Profiling of Enteric vs. Cortical Neural Stem Cells: Establishing a Methodological Foundation for Modeling Enteric NeurodegenerationSemantic proximity Read

Defective NADPH production in mitochondrial disease complex I causes inflammation and cell death.Semantic proximity Read

Mitochondrial fatty acid synthesis is essential for coordinated energy transformationSemantic proximity Read

Loss of Mitochondrial Enoyl CoA Reductase causes elevated ceramide levels and impairs iron metabolismSemantic proximity Read