Original paper
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
Abstract
The ubiquitin-proteasome system is the principal system for protein degradation mediated by ubiquitination and is involved in various cellular processes. Cullin-RING ligases (CRL) are one class of E3 ubiquitin ligases that mediate polyubiquitination of specific target proteins, leading to decomposition of the substrate. Cullin 3 (CUL3) is a member of the Cullin family proteins, which act as scaffolds of CRL. Here we describe three cases of...
Paper Details
Title
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
Published Date
Apr 27, 2020
Journal
Volume
65
Issue
9
Pages
727 - 734
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Notes
History