Article

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

2025-06-18

Abstract excerpt

<h4>ABSTRACT</h4> Hypomorphic variants in the SEL1L-HRD1 ER-associated degradation (ERAD) complex have been linked to severe neurological syndromes in children, including neurodevelopmental delay, intellectual disability, motor dysfunction, and early death. Despite this association, its physiological importance and underlying mechanisms in neurons remain poorly understood. Here, we show that neuronal SEL1L-HRD1 E...

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Literature Corpus work: cdcad035-78a4-5881-82f0-617a8ca603d9
DOI: 10.1101/2025.06.16.659938

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