Pseudo splice sites and cryptic splicing “The human genome has introns that are significantly longer than exons. These long introns contain numerous small segments, called pseudo splice sites, that ...

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.

Within exon 2a of the STMN2 gene, TDP-43 binds between a cryptic splice initiation site and a cryptic poly-A motif. The five ASOs that best squelched cryptic SMN2 splicing bind around the TDP-43 site.

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 ...

Researchers at Baylor College of Medicine and collaborating institutions have discovered that a protein called hnRNPM helps protect the integrity of the process cells use to make proteins. hnRNPM ...

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 ...

They looked into splice sites, the segments that mark the location for the splicing of exons. Pseudo splice sites and cryptic splicing “The human genome has introns that are significantly longer ...

Researchers in the U.K. have succeeded in reverse engineering the defective cryptic splicing that drives amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to enable precisely ...

hnRNPM protects against the dsRNA-mediated interferon response by repressing LINE-associated cryptic splicing. Molecular Cell , 2024; DOI: 10.1016/j.molcel.2024.05.004 Cite This Page : ...

Pathogenic proteotoxicity of cryptic splicing is alleviated by ubiquitination and ER-phagy. Article Publication Date. 14-Nov-2024. Disclaimer: ...