The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay

An activated 5′ cryptic splice site in t

An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

✍ Jonas Denecke; Christian Kranz; Dirk Kemming; Hans-Georg Koch; Thorsten Marquard 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB

A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression le