299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis
Perdigão C et al., EMBO Molecular Medicine, doi:10.1038/s44321-026-00389-6 - In mouse neurons, UFM1 loss or UFM1-R81C expression reduces protein translation, triggers ER stress and PERK activation, im...
24 Feb 21min
298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme
Lin S et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.015 - Bi-allelic FSD1L variants cause retinitis pigmentosa; FSD1L localizes to the photoreceptor axone...
24 Feb 20min
297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder
Serpieri V et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.014 - Bi-allelic FSD1L variants disrupt a microtubule-associated protein, causing hydrocephalus, ...
24 Feb 21min
296: snaR-A ncRNA antagonizes U2 snRNP SF3B2 to drive intron retention in human cells
Zhou S et al., Nature Communications, doi:10.1038/s41467-025-65448-x - snaR-A noncoding RNA interacts with U2 snRNP subunit SF3B2 and nuclear speckles, increasing intron retention and promoting prolif...
21 Feb 20min
295: CFTR deltaF508 and CF-risk variants protect against IBD in large exome study
Yu M et al., Cell Genomics, 6 (2026) 101071. doi:10.1016/j.xgen.2025.101071 - Large-scale exome sequencing shows CFTR risk variants, including deltaF508, reduce susceptibility to inflammatory bowel di...
19 Feb 28min
294: Alternative splicing, exonization and lineage-specific isoforms: PTBP1, MAPT and TE-derived exons in mammalian evolution
Hunter CE et al., The EMBO Journal, doi:10.1038/s44318-025-00666-z - Review shows how alternative splicing, via TE exonization and cis-regulatory changes and revealed by long-read RNA-seq, reshapes ge...
18 Feb 36min
293: IndeLLM (ESM2) zero-shot scoring and Siamese transfer learning for in-frame indel prediction (MCC 0.77)
Gracia Carmona O et al., Patterns, 7 (2026) 101425. doi:10.1016/j.patter.2025.101425 - IndeLLM uses protein language models (ESM2) to score in-frame indels and a compact Siamese transfer-learning mode...
17 Feb 17min
292: INS R6C signal-peptide defect reduces preproinsulin ER translocation in iPSC-derived βcells
Tong Y et al., EMBO Molecular Medicine, doi:10.1038/s44321-025-00362-9 - Patient data, population genetics and iPSC-derived βcell models show INS R6C impairs preproinsulin ER translocation and causes ...
17 Feb 17min
