Article
Structural systems biology approach delineate the functional implications of SNPs in exon junction complex interaction network.
Journal of biomolecular structure & dynamics - 1 Jan 2023
V M Datta Darshan, Sivaramakrishnan Venketesh, Arvind Kumar K
Abstract excerpt
In eukaryotes, transcripts that carry premature termination codons (PTC) leading to truncated proteins are degraded by the Nonsense Mediated Decay (NMD) machinery. Missense and nonsense Single Nucleotide Polymorphisms (SNPs) in proteins belonging to Exon junction complex (EJC) and up-frameshift protein (UPF) will compromise NMD leading to the accumulation of truncated proteins in various diseases. The EJC and UPF...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
