597 papers
This study identifies the depletion of bis(monoacylglycero)phosphate (BMP) and the accumulation of its precursor lysophosphatidylglycerol (LPG) as universal, clinically accessible biomarkers for CLN5 Batten disease, confirming CLN5's role as the essential lysosomal BMP synthase and enabling early diagnosis and patient screening via plasma and dried blood spots.
This study reveals that the simultaneous genetic ablation of SOS1 and SOS2 in mice causes lethal septicemia due to compromised intestinal barrier integrity and stem cell depletion, a phenotype that can be rescued by therapeutic interventions enhancing cellular stemness.
This study identifies Drak as a potential binding partner of Drosophila Filamin that interacts with its mechanically activated conformation and partially colocalizes during embryonic cellularization and flight muscle development, although a direct functional correlation between the two proteins could not be established.
This study introduces CaRPOOL, a high-throughput CRISPRi screening platform that integrates CaMPARI2 to capture transient calcium signals, enabling the discovery of CCR7 as a novel GPCR that modulates cellular osmomechanosensing through a PIEZO1-dependent pathway.
This study reveals that the splicing activator U2AF2 promotes intron retention in lncRNAs PURPL and MALAT1, a mechanism essential for their nuclear localization and the subsequent regulation of cell proliferation and migration.
The paper introduces SCALE, a scalable foundation model for virtual cell perturbation prediction that integrates a high-throughput BioNeMo framework, a stable conditional transport architecture with LLaMA-based encoding, and biologically faithful evaluation metrics to overcome existing bottlenecks in efficiency, stability, and biological fidelity.
This study reveals that in *C. elegans*, selective activation of the IRE-1/XBP-1 branch of the unfolded protein response, while suppressing the PEK-1 branch, coordinates enhanced protein folding with restored translation machinery to drive rapid organismal rejuvenation from adult reproductive diapause upon refeeding.
This study demonstrates that RNF43 does not directly regulate endogenous EGFR or BRAF protein stability, revealing that previously observed EGFR elevation in certain knockout models was an artifact of CRISPR/Cas9 vector integration rather than a genuine biological effect.
This study demonstrates that the abundance of non-translated mRNA dictates the assembly pathway and biophysical properties of cytoplasmic processing bodies (P-bodies), where strong translation attenuation leads to the formation of few, bright, and fluid P-bodies that recruit decay factors en bloc, while weaker attenuation results in numerous, dim, and viscous P-bodies with sequential protein recruitment.
Using human iPSC-derived cortical neurons, this study reveals that while both ST3GAL5 and B4GALNT1 deficiencies eliminate major gangliosides, only ST3GAL5 loss triggers a fatal reprogramming of the lipid repertoire that depletes plasma membrane proteins and abolishes neuronal activity, whereas B4GALNT1 deficiency is compensated by precursor sialylated lipids that preserve membrane organization and electrical function.
This study introduces a novel competitive transplantation assay in humanized NBSGW mice using HLA-mismatched CD34+ cells to enable simultaneous engraftment and longitudinal tracking of distinct human grafts, thereby filling a critical translational gap for assessing intrinsic repopulating capacity and advancing human hematopoietic biology.
This study establishes a live-cell autophagy reporter in naked mole-rat skin fibroblasts to reveal that, unlike conventional models, these cells exhibit a distinct steady-state autophagy-lysosome organization and undergo a unique, reversible vacuolation response to lysosomal stress without acute cytotoxicity.
This study identifies Cep192 insufficiency as the primary cause of haploid instability in human cells due to failed spindle bipolarization and demonstrates that restoring Cep192 levels, particularly in combination with enhancing the acentrosomal spindle pathway, effectively stabilizes the haploid state for genome engineering applications.
This study demonstrates that the inner nuclear membrane protein Sun2 acts as a critical mechanosensing node required for stiffness-dependent extracellular matrix production and lung fibrosis, suggesting that targeting Sun2-containing LINC complexes could mitigate fibrotic disease.
This study reveals that the AAA+ ATPase FIGNL1 prevents age-dependent accumulation of RAD51 on non-damaged chromosomes in mammalian oocytes, a process whose failure leads to defective chromosome condensation and meiotic arrest due to the mislocalization of condensin II and topoisomerase II.
This study establishes an optimized protocol for isolating, expanding, and differentiating canine intestinal organoids from the duodenum and colon, demonstrating that 100 nM PGE2 enhances growth and a two-phase differentiation approach yields functional, marker-positive models suitable for future disease research and translational applications despite a limited sample size.
By applying quantitative 3D soft X-ray tomography to intact INS-1E cells, this study reveals that high glucose and Exendin-4 stimulation induce a coupled remodeling of mitochondrial shape, metabolic density, and subcellular location, establishing a structure-density-location relationship across different mitochondrial morphotypes.
The study reveals that the human rhomboid protease RHBDL2 acts as a calcium-activated suppressor of EGFR signaling in keratinocytes by shedding the receptor's ectodomain, thereby limiting cell migration and invasion while promoting proper skin differentiation.
This study identifies SUN2 as a critical nuclear mechanosensor that mediates epigenetic remodeling by coupling extracellular matrix stiffness to chromatin regulation and fibrotic gene expression, thereby driving skin fibrosis and representing a potential therapeutic target.
This study establishes that MORC2 mediates transcriptional silencing through DNA-templated liquid-liquid phase separation, where dynamic condensates driven by specific structural interactions are essential for its repressor function and whose dysregulation underlies human neuropathies.