Article
Effect of the c.2324C>T Mutation in the COG5 Subunit Gene of the Oligomeric Golgi Complex on Its Expression
2026-05-07
Abstract excerpt
<title>Abstract</title> <p>Background Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases caused by defects in genes involved in protein and lipid glycosylation. The conserved oligomeric Golgi (COG) complex plays a critical role in the maintenance of the Golgi structure and retrograde vesicle transport. Mutations in COG5 are associated with CDG; however, the functional consequ...
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Identifiers and source
- Literature Corpus work
- 780ea1e8-3116-50ca-80cf-062d1311dc41
- DOI
- 10.21203/rs.3.rs-9327009/v1
