Article
A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.
Genes & genomics - 1 Sept 2024
Han Ye, Ge Yangyang, Liu Haoran, Liu Liying, Xie Lina, Chen Xiaoli, Chen Qian
Abstract excerpt
BACKGROUND: Neurodevelopmental disorders (NDDs) encompass a diverse group of disorders characterized by impaired cognition, behavior, and motor skills. Genetic factor is the leading cause in about 35% of NDDs patients. Mutations of UFC1, an E2 enzyme participating in the post-translational modification of proteins through attachment of ubiquitin-like proteins, were recently reported to be associated with NDDs....
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