Article

Functional rescue of a fatal ERAD mutation via alternative splicing

2025-06-15

Abstract excerpt

<h4>ABSTRACT</h4> Endoplasmic reticulum (ER)-associated degradation (ERAD) is essential for cellular proteostasis, with the SEL1L-HRD1 protein complex targeting misfolded proteins in the ER for proteasomal degradation. Disruption of this pathway underlies a recently identified infant-onset neurodevelopmental disorder (ENDI syndrome), characterized by profound developmental delay, microcephaly, and immune deficien...

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Literature Corpus work: 005d1d7f-fcb7-56bd-8458-9359d5216cff
DOI: 10.1101/2025.06.13.659581

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