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Article

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.

Journal of human genetics - 1 May 2021

Kato Kohji, Miya Fuyuki, Oka Yasuyoshi, Mizuno Seiji, Saitoh Shinji

Abstract excerpt

CUL3 forms Cullin-Ring ubiquitin ligases (CRL) with Ring-box protein and BTB-adaptor proteins. A variety of BTB-adaptor proteins have been reported to interact with the N-terminus of CUL3, which makes it possible to recognize various substrates for degradation. Regarding the association of CUL3 with neurodevelopmental disorders, a recent study reported three patients with global developmental delay, who carried...

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PMID: 33130828
DOI: 10.1038/s10038-020-00868-9

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