443: 5D‑ASO boosts exon 51 skipping and restores dystrophin in DMD models
Feng P et al., PNAS - This paper describes a bipartite antisense oligonucleotide (5D‑ASO) design that appends a short 5′ splice site decoy tail to improve exon skipping, demonstrating robust efficacy ...
18 Aug 19min
442: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants
Rolseth AB et al., Proceedings of the National Academy of Sciences (PNAS) - This study links reduced Ca2+ entry through mutant TMC1 mechanotransducer channels to decreased PMCA2 pump density in outer ...
17 Aug 22min
441: Evolutionary mapping of Cav1.3 functional sites
Tang X et al., PNAS - The authors apply an evolutionary sequence-covariation model to the Cav1.3 (CACNA1D) α1-subunit, map predicted pathogenicity onto structural models, and validate five predicted s...
14 Aug 24min
440: DENV-4: Suppressing DNA Repair and Causing Genome Damage
Lamkina EN et al., PNAS - This episode reviews a PNAS brief report showing that DENV-4 infection induces marked DNA damage in infected cells while broadly suppressing transcription of DNA repair pathw...
12 Aug 23min
439: Coembedding Sequence and Structure: CLSS Maps the Protein Universe
Longo LM et al., PNAS - This episode summarizes a PNAS study introducing CLSS, a contrastive two-tower protein language model that coembeds domain sequences, structures, and subsequences into a shared...
11 Aug 23min
438: Mapping AIRE: a proactive atlas of 9,790 missense variants
Axakova A et al., The American Journal of Human Genetics - Axakova et al. generated a variant effect map for AIRE using an insulin‑promoter GFP reporter in HEK293 cells to measure the functional impac...
10 Aug 24min
437: Cell villages and Dirichlet modeling map human cell fitness genetics
Hanson C et al., The American Journal of Human Genetics - Hanson et al. combine pooled multi-donor human neural progenitor cell "villages" with Townlet, a hierarchical Dirichlet regression model, to e...
9 Aug 28min
436: KIAP4 and the ARND family: building the Leishmania adhesion plaque
Owino BO et al., PNAS - Using TurboID proximity proteomics and microscopy, researchers identify KIAP4 as the canonical member of a conserved Adhesion Related NTPase-like Domain (ARND) family that loca...
8 Aug 24min
