Article

Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers

2024-05-05

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). 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. Because of...

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Literature Corpus work: fbf8f7fb-d4b0-5ef0-a48d-59fe6af55073
DOI: 10.1101/2024.05.03.592434

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