Article
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
American journal of human genetics - 7 Jan 2021
Li Chunmei, Beauregard-Lacroix Eliane, Kondratev Christine, Rousseau Justine, Heo Ah Jung, Neas Katherine, Graham Brett H, Rosenfeld Jill A, Bacino Carlos A, Wagner Matias, Wenzel Maren, Al Mutairi Fuad, Al Deiab Hamad, Gleeson Joseph G, Stanley Valentina, Zaki Maha S, Kwon Yong Tae, Leroux Michel R, Campeau Philippe M
Abstract excerpt
The ubiquitin-proteasome system facilitates the degradation of unstable or damaged proteins. UBR1-7, which are members of hundreds of E3 ubiquitin ligases, recognize and regulate the half-life of specific proteins on the basis of their N-terminal sequences ("N-end rule"). In seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies, we uncovered bi-allelic variants in...
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