The team also discovered that in the absence of hnRNPM, cryptic splicing can form double stranded RNA (dsRNA), which is known to trigger interferon immune responses.

The researchers discovered that despite the presence of many pseudo splice sites, RNA splicing occurs accurately and precisely thanks to the RNA-binding protein hnRNPM. They discovered this by ...

New Cryptic Exon. Compared to UNC13A splicing in control iPSC-derived neurons (teal), the transcript in cells with TDP-43 knocked down (gold) harbored a cryptic exon. Single-nucleotide polymorphisms ...

More information: Cristian Prieto-Garcia et al, Pathogenic proteotoxicity of cryptic splicing is alleviated by ubiquitination and ER-phagy, Science (2024). DOI: 10.1126/science.adi5295 ...

TDP-43 prevents mis-splicing of STMN2 by blocking a cryptic-exon splice site. Antisense oligonucleotides that bind near the site do the same. The ASOs restored full-length STMN2 in TDP-43 mutant motor ...

The team also discovered that in the absence of hnRNPM, cryptic splicing can form double stranded RNA (dsRNA), which is known to trigger interferon immune responses.

New cryptic splice variants and SNVs in PLCg1 gene of Alzheimer's disease (AD)-specific models for the first time using Splice-AI have been discovered.

If pseudo splice sites are used instead of the correct splice sites during protein synthesis, the resulting mRNA will contain the wrong instructions – cryptic splicing – that could alter ...

Article Title Pathogenic proteotoxicity of cryptic splicing is alleviated by ubiquitination and ER-phagy.

"If pseudo splice sites are used instead of the correct splice sites during protein synthesis, the resulting mRNA will contain the wrong instructions -- cryptic splicing -- that could alter normal ...