Raghavendran Partha

Sep 11, 2024 | journals.plos.org | Holly Thorpe |Raghavendran Partha |Jordan Little |Nathan Clark

Loading metrics Open Access Peer-reviewedResearch Article ? This is an uncorrected proof. Citation: Thorpe HJ, Partha R, Little J, Clark NL, Chow CY (2024) Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers. PLoS Genet 20(9): e1011406. https://doi.org/10.1371/journal.pgen.1011406Editor: Harmit S.

May 5, 2024 | biorxiv.org | Holly Thorpe |Raghavendran Partha |Jordan Little |Nathan Clark

AbstractMutations in glycosylation pathways, such as N-linked glycosylation, O-linked glycosylation, and GPI anchor synthesis, lead to Congenital Disorders of Glycosylation (CDG). CDGs 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.