Article

Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome

2025-10-05

Abstract excerpt

<title>Abstract</title> <p> <italic>CUL1</italic> encodes a scaffolding protein of the SKP1-CUL1-F-box E3 ubiquitin ligase complex, which mediates substrate ubiquitination and proteasomal degradation. Despite CUL1’s essential roles, it has not been implicated in human disease. We identified ten unrelated individuals with a syndromic neurodevelopmental disorder, with or without movement abnormalities carrying <...

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Literature Corpus work: 16ef2c34-57c9-53ed-a9b1-0009313a8fb5
DOI: 10.21203/rs.3.rs-7745906/v1

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