365: MEN1 mutations and menin inhibitor resistance
Bourgeois et al., Nature Communications - This study used enhanced CRISPR base editor screens, structural biology, biochemical assays, and in vitro/in vivo selection to map MEN1 mutations that drive r...
15 Touko 22min
364: Peripheral C4 and Schizophrenia: A Neutrophil Gene–Protein Link
Kalinowski A et al., PNAS - This study reports that C4 protein is enriched in human neutrophils and monocytes and that neutrophil C4 protein levels correlate with C4A gene copy number specifically in ...
11 Touko 17min
363: cfDNA size deconvolution reveals a 159‑bp nucleosomal pivot and tumor fragmentomic signatures
Zhou Z et al., Nature Communications - This study develops a Lorentzian deconvolution model of cfDNA fragment length distributions across bodily fluids, identifies a ~159 bp component that demarcates ...
9 Touko 22min
362: D614G Reshapes Spike Allostery and Speeds RBD Opening
Kearns FL et al., PNAS - Simulations and HDXMS reveal how the D614G substitution alters internal communication in SARS-CoV-2 spike, enabling faster receptor-binding-domain opening through newly engage...
9 Touko 18min
361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs
Beckner RL et al., PNAS - This episode examines a PNAS study using Chiral Inversion Mutagenesis (ChIM) to scan low-complexity domains (LCDs) of Emerin and neurofilament light chain (NEFL). Targeted L-...
8 Touko 24min
360: An inverse correlation between structural linguistic and human genetic diversity
Graff A et al., PNAS - A PNAS study linking global population-genetic data and structural linguistic features finds an inverse correlation: regions with lower genetic diversity show higher structural ...
7 Touko 26min
359: Ultrapotent PDCoV Miniprotein MB11
Avery NG et al., PNAS - This episode covers a PNAS study reporting the de novo design of miniprotein inhibitors targeting porcine deltacoronavirus (PDCoV). The lead minibinder, MB11, binds the PDCoV R...
6 Touko 23min
358: CHCHD4 and a Pediatric OXPHOS Collapse
Mantecon M et al., Human Genetics and Genomics Advances - This episode reviews a brief communication reporting a pediatric patient with biallelic CHCHD4 variants who presented with severe neurological...
5 Touko 25min
