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Neuronal SEL1L-HRD1 ERAD regulates one-carbon metabolism and is essential for motor function and survival

GSE299894 Mus musculus Expression profiling by high throughput sequencing 4 samples Submitted 2026/02/10 Platform GPL24247
Summary
SEL1L-HRD1 endoplasmic reticulum-associated degradation (ERAD) is essential for protein folding quality control and maintaining homeostasis in the ER. Defects in SEL1L-HRD1 ERAD complex has been linked to early onset of severe neurological syndromes. However, its physiological importance and underlying mechanisms in neurons remain poorly understood. This study established a mouse model with neuron-specific deletion of Sel1L and revealed that neuronal SEL1L-HRD1 ERAD is essential for maintaining one-carbon metabolism, motor function, and overall viability.
Published in
Neuronal SEL1L-HRD1 ER-associated degradation is essential for motor function and survival in mice
Torres M, Lu Y, Pederson B et al. · The Journal of clinical investigation 2026 · PMID 41712288 · doi:10.1172/JCI196819
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Also filed as BioProject PRJNA1277270 and SRA study SRP592281. Searching any of these in the dataset finder brings you back here.

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