Article
Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers.
PLoS genetics - 1 Sept 2024
Thorpe Holly J, Partha Raghavendran, Little Jordan, Clark Nathan L, Chow Clement Y
Abstract excerpt
Mutations in glycosylation pathways, such as N-linked glycosylation, O-linked glycosylation, and GPI anchor synthesis, lead to Congenital Disorders of Glycosylation (CDG). CDG typically present with seizures, hypotonia, and developmental delay but display large clinical variability with symptoms affecting every system in the body. This variability suggests modifier genes might influence the phenotypes. Because of...
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