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Wu, J.

Publications and source records attributed to Wu, J..

At least 109 records · Page 6Linked to original sources

Oscillating Hypercapnia Induces Neural Abundant Protein Efflux and Potential Depletion in Health and Chronic Traumatic Brain Injury

Emerging preclinical and clinical evidence suggests that low frequency hemodynamic oscillations drive CSF flow, which in turn mediates glymphatic clearance. The current study investigated whether CO2-induced low frequency hemodynamic oscillations during magnetic resonance imaging would increase clearance of proteins (glial fibrillary acidic protein, neurofilament light chain, ptau217 and brain-derived tau) from brain to blood, and temporarily improve cognitive performance in individuals with chronic traumatic brain injury (TBI) and age/sex-matched healthy controls. Results indicated that cerebrovascular reactivity, normalized CSF volume, and predicted brain age significantly differed between chronic TBI and controls, while bulk CSF flow differed only at trend levels. Multiple protein concentrations were significantly increased at [~]45 minutes post-hypercapnia, decreased at [~]90 minutes, and returned to pre-hypercapnia levels by [~]150 minutes. Protein efflux was more strongly associated with total CSF volume and total white matter volume rather than cerebrovascular reactivity or bulk CSF flow. Both groups exhibited reduced cognitive interference post-hypercapnia, and hypercapnia associated symptoms quickly returned to baseline levels. In conclusion, hypercapnia temporarily increases clearance of multiple neural abundant proteins into blood, and this effect is moderated by atrophy. Current results suggest that hypercapnia may therapeutically combat pathological protein aggregation post-trauma, and prophylactically during normal aging.

neuroscience↗

In-silico cell sorting revealed granulocyte-specific single-cell-type gene expression from peripheral blood bulk expression data and its application as host response biomarkers to discriminate bacterial and viral infections

Peripheral Blood transcriptome analysis evaluated the bulk transcript abundance (TA) covering all leukocyte cell populations. However, there are 2 main problems in using bulk expression as biomarkers: (1) A long list of differential expression genes (DEGs) was found, and (2) DEGs cannot be attributed to a host response of any specific cell-type. TA assays after conventional cell sorting, as the gold-standard method, is too tedious for routine use. Recently, we showed that by using a ratio-based biomarker, RBB (ratio of two stringently selected genes), it is feasible to interrogate the gene expression of a single cell-type (monocyte and B lymphocyte) in peripheral whole blood (WB) directly. Here, we apply this in-silico cell sorting algorithm (DIRECT LS-TA, Direct Leukocyte Single cell-type Transcript Abundance) to granulocytes in WB samples to reveal RBBs specific to granulocytes. This DIRECT LS-TA approach without the need for cell-sorting was applied to public datasets to differentiate the 2 types of infection (bacterial vs viral infection). The following RBBs measured in WB correlate with the expression of target (numerator) genes in purified granulocytes, thus cell-sorting can be avoided by using these RBBs: ARG1/SRGN, ANXA3/SRGN, RSAD2/SRGN. Together with monocyte DIRECT LS-TA biomarkers, IFI27/PSAP, direct quantification of 4 genes provided optimal differentiation of viral from bacterial infection. Meta-analysis and unsupervised machine learning classification confirmed the superior performance of DIRECT LS-TA biomarkers. These RBBs found by prior In-silico cell-sorting identified pairs of genes that are used to formulate as ratio-based biomarkers (RBBs) to represent gene expression of granulocytes inside whole blood cell-mixture samples which was useful to triage febrile patients into two major categories of febrile diseases between viral and bacterial infection with high degree of sensitivity and specificity.

immunology↗

Platelets Outperform Leukocytes in Transcriptomic Liquid Biopsy Profiling of Myeloproliferative Neoplasms

Myeloproliferative neoplasms (MPNs) are characterized by progressive myelofibrosis that drives morbidity and mortality. Liquid biopsy approaches to noninvasively monitor fibrotic progression remain limited. We performed comparative transcriptomic profiling of CD45-depleted platelet-enriched and CD45+ leukocyte-enriched fractions from matched peripheral blood samples of 76 individuals (27 primary myelofibrosis, 17 polycythemia vera, 14 essential thrombocythemia, 18 healthy controls). Platelet RNA sequencing was performed in 2018-2020 on Illumina HiSeq 4000, while WBC RNA sequencing was conducted in 2023 on Illumina NovaSeq 6000 from cryopreserved CD45+ enriched fractions of specimens obtained at the identical time and from the same blood sample as the platelet RNA. Despite comparable library preparation protocols and higher sequencing depth in WBC samples, platelet transcriptomes exhibited 5.1-fold more differential expression in myelofibrosis (3,453 versus 681 genes, adjusted p<0.05, |log2FC|>1). Platelet signatures were enriched for proteostasis pathways including endoplasmic reticulum stress and unfolded protein response, reflecting megakaryocyte dysfunction in the fibrotic bone marrow niche. WBC signatures predominantly featured immune activation and proliferative pathways, indicating systemic inflammatory responses. Multinomial LASSO classification demonstrated superior performance of platelet-based models for myelofibrosis diagnosis (AUROC 0.85) compared to WBC-based (AUROC 0.77) or clinical models (AUROC 0.59). Combined platelet+WBC models did not improve performance (AUROC 0.80), indicating complementary but non-additive information. These findings establish platelet transcriptomic profiling as a superior noninvasive biomarker platform for monitoring myelofibrosis in MPNs, capturing megakaryocyte-driven fibrogenesis with greater sensitivity than peripheral leukocyte-based approaches. HighlightsUsing matched WBC and platelet RNA-seq from MPN patients, we identify myelofibrosis-associated transcriptomic signatures specifically enriched in platelets. Multinomial LASSO modeling highlights platelet-derived gene expression as a dominant and predictive biomarker of myelofibrosis, outperforming clinical parameters and WBC signatures. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=75 SRC="FIGDIR/small/714941v1_ufig1.gif" ALT="Figure 1"> View larger version (21K): org.highwire.dtl.DTLVardef@10a388borg.highwire.dtl.DTLVardef@66079org.highwire.dtl.DTLVardef@a7c29eorg.highwire.dtl.DTLVardef@1da1a96_HPS_FORMAT_FIGEXP M_FIG C_FIG

pathology↗

Non-invasive MRI mapping of tissue-CSF water exchange reveals glymphatic fluid movement in live human cortex

Efficient metabolic waste clearance, via the postulated glymphatic system, is essential for neural homeostasis. However, direct visualization of tissue-cerebrospinal fluid (CSF) exchange remains limited, leading to ongoing debate in the neuroscientific field. The present work revealed evidence of tissue-CSF water exchange in the live human cortex, by employing a novel MRI technique demonstrating the flux of water molecules across the perivascular interface. We observed robust water exchange inside the cortical ribbon, which was more prominent than white matter and deep brain tissue. We validated that the signal originates from CSF and is independent of cerebral perfusion. Water exchange between tissue and CSF declined with age. Furthermore, we demonstrated for the first time that tissue-CSF exchange was impaired in Alzheimers disease (AD), in particular in regions where the perivascular space is clogged by anti-amyloid immunotherapy.

bioengineering↗

Hyperactive STAT1 Promotes T Follicular Helper Type 1 Cell Differentiation to Trigger Autoimmunity

ABSTRACTSHeterozygous gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause an inborn error of immunity characterized by immune dysregulation, recurrent infections and various autoimmune manifestations. However, the precise pathogenic mechanism by which STAT1 GOF contributes to autoimmunity remains elusive. In our cohort, STAT1-GOF patients exhibit biased circulating follicular helper T (cTfh) populations with CXCR3+ Tfh1-like features. Using a Stat1 GOF mouse model that spontaneously developed autoimmunity, we found that overactivated STAT1 promotes Tfh differentiation and disrupted T cell-dependent humoral responses with skewed immunoglobulin class switching towards IgG2. Furthermore, STAT1 GOF directly targets to Tfh and Th1 cell signature genes and thereby drives the development of Tfh1 cells with excessive IFN-{gamma} production, which implicated in autoantibody production and the development of autoimmunity. Notably, IFN-{gamma} neutralization significantly alleviated autoimmune cellular responses and autoantibody levels in mutant mice, highlighting IFN-{gamma} blockade as a promising targeted therapy for the STAT1-GOF patients with autoimmunity. Our findings suggest that proper regulation of STAT1 activity within a reasonable magnitude is crucial for ensuring optimal host-protective humoral immunity. One-sentence summaryOveractivated STAT1 promotes Tfh1 differentiation to drive autoimmunity.

immunology↗

HEPLISAV-B Breaks Immune Tolerance and Induces HBV Control via CD4 T Cell-Dependent Mechanisms in a Chronic Hepatitis B Mouse Model

BackgroundChronic hepatitis B virus (HBV) infection (CHB) affects nearly 300 million individuals globally and remains incurable with current antiviral therapies, which suppress viral replication but rarely achieve functional cure defined by sustained loss of hepatitis B surface antigen (HBsAg). CHB is characterized by profound virus-induced immune tolerance that limits the efficacy of conventional therapeutic vaccination strategies. ObjectiveTo evaluate the therapeutic efficacy and immunological mechanisms of HEPLISAV-B, a CpG-1018-adjuvanted HBsAg vaccine, in breaking immune tolerance and inducing functional cure-like responses in a murine model of CHB. DesignUsing the adeno-associated virus-HBV (AAV-HBV) mouse model, mice with high levels of persistent HBV viremia were vaccinated with two doses of HEPLISAV-B. Virological outcomes in the blood and liver, immune responses and mechanisms were assessed. ResultsHEPLISAV-B induced rapid and durable HBsAg clearance, markedly reduced circulating and intrahepatic HBV DNA and RNA, and suppressed viral replication without hepatocellular injury. Vaccination elicited robust, sustained anti-HBs IgG1 and IgA responses, enhanced HBsAg-specific T and B cell immunity, reduced CD4 regulatory T cells, and decreased PD-1 expression on CD4 T cells. Therapeutic efficacy was strictly dependent on CD4 T cells and the CD40/CD40L signaling pathway, but independent of CD8 T cells, indicating a CD4-driven, non-cytolytic antiviral mechanism critical for HEPLISAV-B induced HBV control. ConclusionHEPLISAV-B effectively breaks HBV-induced immune tolerance and restores coordinated antiviral immunity through a CD4 T cell-/CD40L-dependent pathway. The findings support its potential as a therapeutic vaccine in CHB patients. Key messagesO_ST_ABSWhat is already known on this topicC_ST_ABSChronic HBV infection is marked by profound virus-induced immune tolerance, current antiviral therapies and vaccines fail to reliably induce HBsAg loss or restore effective antiviral immunity, highlighting the need for immune-based therapeutic strategies. What this study addsThis study demonstrates that the clinically approved vaccine HEPLISAV-B can break HBV immune tolerance in a chronic HBV mouse model, inducing durable HBsAg clearance and anti-HBs immunity, non-cytolytic depletion of intrahepatic HBV DNA, through a mechanism strictly dependent on CD4 T cells and CD40/CD40L signaling. How this study might affect research, practice or policyThese findings defined a CD4 T cell-CD40L/CD40 axis that is critical in CHB functional cure, and support testing HEPLISAV-B as a therapeutic vaccine in CHB patients. O_FIG O_LINKSMALLFIG WIDTH=165 HEIGHT=200 SRC="FIGDIR/small/711721v1_ufig1.gif" ALT="Figure 1"> View larger version (34K): org.highwire.dtl.DTLVardef@1f78e63org.highwire.dtl.DTLVardef@1a54631org.highwire.dtl.DTLVardef@1a33ee2org.highwire.dtl.DTLVardef@75a2bd_HPS_FORMAT_FIGEXP M_FIG Graphical Abstract C_FIG

immunology↗

A clubroot pathogen PBS3-like effector manipulates hormonal crosstalk to alter root morphology during colonization

O_LISalicylic acid (SA) and auxin are key regulators of plant immunity and development. The clubroot pathogen Plasmodiophora brassicae encodes PbGH3, an effector related to the GH3 family involved in phytohormone homeostasis. Although PbGH3 was proposed to conjugate auxin in vitro, its biological function in planta has remained unclear. This study aimed to determine the in vivo role of PbGH3 during host colonization. C_LIO_LIWe generated Arabidopsis thaliana and Brassica napus lines overexpressing PbGH3 and characterized their developmental phenotypes, hormone profiles, gene expression, and susceptibility to infection. Structural modeling was performed to assess PbGH3 similarity to plant GH3 proteins, and functional complementation was tested using the Arabidopsis gh3.12 mutant. C_LIO_LIThe expression of PbGH3 in Arabidopsis induced auxin-related developmental phenotypes without detectable accumulation of auxin conjugates. Instead, PbGH3 structurally and functionally resembled GH3.12/PBS3 inducing increased conjugated SA levels, reduced jasmonic acid, suppressed PIN2 expression, and increased root hair number and infection. PbGH3 complemented SA-related defects in the gh3.12 mutant. C_LIO_LIPbGH3 functions as a modulator of SA metabolism rather than an auxin-conjugating enzyme, likely competing with host GH3.12/PBS3 to constrain effective SA accumulation. This reveals a novel strategy by which P. brassicae disrupts SA-auxin homeostasis to promote host colonization and ensure disease development. C_LI PLAIN LANGUAGE SUMMARYThis study shows that the clubroot pathogen uses a protein called PbGH3 to modify the plants salicylic acid balance. This alters root traits and increases susceptibility to infection. Arabidopsis and canola plants engineered to produce PbGH3 showed similar changes, revealing that the pathogen uses this protein to disrupt hormone regulation and create conditions that support its colonization.

plant biology↗

Co-evolution of Oncogenic KRAS Signaling and LILRBhigh Macrophages Drives Pancreatic Cancer Recurrence

Pancreatic ductal adenocarcinoma (PDAC) frequently recurs after surgical resection, indicating that residual disease is sustained by coordinated tumor-microenvironment interactions. To define the biological basis of recurrence, we leverage large-scale clinical data from 2,710 patients, deeply characterized multi-omics profiling (whole-exome, bulk RNA, and single-nucleus sequencing) of 36 matched primary and locally recurrent PDACs, an in-house multiplex spatial imaging cohort of 190 patients, and extensive public datasets. Recurrent tumors were characterized by increased KRAS mutant allele dosage and reinforced KRAS signaling, accompanied by expansion of basal-like malignant cell states. In parallel, we identified an immunosuppressive macrophage population marked by high LILRB expression that spatially co-localized with KRAS-activated tumor cells. Functional studies showed that LILRB4+ macrophages enhanced tumor cell plasticity and progression, whereas inhibition of macrophage LILRB4 suppressed these phenotypes. Notably, a first-in-class human anti-LILRB4 antibody reduced macrophage-driven tumor traits, and dual targeting of KRAS signaling and LILRB4 achieved superior tumor control in macrophage-containing mouse models. These findings reveal a co-evolved tumor-immune niche underlying PDAC recurrence and nominate the KRAS-LILRB4 axis as a therapeutic vulnerability.

cancer biology↗

Dissociable frequency regimes in human temporal cortex integrate facial and acoustic cues during natural speech

Face-to-face communication relies on the seamless integration of visual and acoustic cues, yet the spatiotemporal principles governing how the human brain dynamically represents and combines these multisensory streams remain largely unresolved. To address this, we recorded high-density electrocorticography (ECoG) from eight participants perceiving matched audiovisual, audio-only, and video-only continuous natural Mandarin speech. Using time-frequency-resolved encoding models, we reveal complementary, frequency-dependent integration regimes across the temporal lobe. We show that the superior temporal gyrus (STG) implements a feature-selective, auditory-dominant strategy, utilizing visual input to selectively strengthen low-frequency representations of lip-reading kinematics. Conversely, the middle temporal gyrus (MTG) acts as a higher-order multisensory hub, employing a frequency-selective strategy to broadly integrate diverse facial and articulatory features. Crucially, we demonstrate that access to visual information during perception significantly improves the acoustic and lexical accuracy of neural speech decoding and re-synthesis, with the MTG driving the largest gains in linguistic intelligibility. These findings uncover the dissociable neural architectures supporting robust multisensory perception, providing critical mechanistic insights for the development of next-generation, multimodal brain-computer interfaces.

neuroscience↗

Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes

Predicting the functional significance of structural variants (SVs) associated with genetic diseases remains challenging. To test the hypothesis that SVs from people with congenital heart disease (CHD) disrupt developmental chromatin interactions, we developed CardioAkita, a machine-learning model that predicts how variants alter 3D chromatin structure. Analyzing previously genotyped de novo SVs (dnSVs), we observed a positive association between CHD severity and CardioAkita scores across dozens of families. From whole-genome sequencing of three individuals with CHD we predicted disruptive dnSVs. Induced pluripotent stem cells engineered to harbor these variants confirmed CardioAkitas predictions of 3D chromatin changes, and further revealed aberrant expression of local genes including cardiac developmental genes, suggesting that chromatin reorganization plays a significant mechanistic role in the genetic etiology of CHD. Our findings highlight the potential for models of 3D chromatin organization to predict the pathogenicity and underlying mechanisms of SVs in human disease.

genomics↗

PantheonOS: An Evolvable Multi-Agent Framework for Automatic Genomics Discovery

The convergence of large language model-powered autonomous agent systems and single-cell biology promises a paradigm shift in biomedical discovery. However, existing biological agent systems, building upon single-agent architectures, are narrowly specialized or overly general, limiting applications to routine analyses. We introduce PantheonOS (https://PantheonOS.stanford.edu), an evolvable, privacy-preserving multi-agent framework designed to reconcile generality with domain specificity. Critically, PantheonOS enables agentic code evolution, allowing evolving state-of-the-art batch correction and our reinforcement-learning augmented gene panel selection algorithms to achieve super-human performance. PantheonOS drives biological discoveries across systems: uncovering asymmetric paracrine Cer1-Nodal inhibition in proximal-distal axis formation of novel early mouse embryo 3D data; integrating human fetal heart multi-omics with whole-heart data to reveal molecular programs underpin heart diseases; and adaptively selecting virtual cell models to predict cardiac regulatory and perturbation effects. Together, PantheonOS points towards a future where scientific discoveries are increasingly driven by self-evolving AI systems across biology and beyond. Websitehttps://pantheonos.stanford.edu Ecosystemhttps://github.com/aristoteleo SummaryLarge language model-powered agent systems are driving a paradigm shift in scientific discovery by automating, scaling, and accelerating data analysis. This transformation is particularly profound in biology, where the rapid expansion of single-cell and spatial genomics has effectively reshaped the field into a data-intensive science. However, existing biological agent systems are typically constrained to single-agent designs, are narrowly specialized, or are overly general without sufficient domain expertise, limiting their applicability to routine or shallow analyses. Here, we introduce PantheonOS (https://pantheonos.stanford.edu), an evolvable, privacy-preserving, and general-purpose multi-agent framework designed to reconcile generality with deep domain specificity. PantheonOS provides an abstract, extensible architecture that enables customized agent composition and supports end-to-end single-cell and multi-omics analysis, spanning reinforcement-learning-augmented gene panel design, raw FASTQ processing, multimodal data integration, and three-dimensional spatial genomics reconstruction. Central to this framework, Pantheon-Evolve enables agentic code evolution, allowing the system to autonomously improve state-of-the-art batch-correction algorithms and new reinforcement-learning based gene panel design algorithms, achieving performance beyond manually designed baselines. We demonstrate the power of PantheonOS across multiple biological domains. In early mouse embryogenesis, PantheonOS automatically reconstructs three-dimensional spatial gene expression landscapes and resolves asymmetric Cer1 expression and paracrine Cer1-Nodal inhibition, revealing a robust proximal-distal axis at embryonic day six (E6.0). In human development, PantheonOS integrates fetal heart single-cell multi-omics with whole-heart 3D MERFISH+ data at post-conception week 12, uncovering spatially resolved molecular programs underlying heart disease ontogeny. Finally, an intelligent model-routing mechanism enables PantheonOS to adaptively select optimal virtual cell models across heterogeneous tasks, revealing minimal regulatory networks of cardiogenesis and predicting spatially resolved perturbation effects in the developing heart. Together, PantheonOS establishes a foundation for fully automated, evolvable, and domain-aware agentic analysis in genomics, and points toward a future in which scientific discovery is increasingly driven by self-improving AI systems across biology and beyond.

bioinformatics↗

SplitAligner: A Gene-Species Tree Reconciliation Framework Using Split-Based Branch Mapping

Phylogenomic analyses are increasingly focused on branch-specific questions within a fixed species tree. However, two pervasive challenges in real datasets--missing taxa and gene-tree/species-tree discordance--complicate the comparability of branches across loci. Here, we introduce SplitAligner, a split-based framework that defines branch identity on a fixed species-tree backbone and evaluates it gene by gene under varying taxon coverage. For each species-tree branch, SplitAligner projects its split onto the gene-specific taxon set to determine whether the branch is evaluable or structurally missing due to a degenerate projected split. Under fixed-topology gene trees, this projection reveals branch fusion, where multiple species-tree branches collapse into an indistinguishable fusion group on the observed taxa. SplitAligner reports such cases as composite fused-branch identities and aggregates branch lengths accordingly. Under free-topology gene trees, SplitAligner further identifies topology-induced missingness (NA_topo), where a branch is decisive under the projected-split criterion but its projected split is absent from the gene tree, separating discordance-driven absence from coverage-driven missingness. These operations produce standardized gene x branch tables and a branch-wise concordance score (Support), defined as the fraction of decisive genes whose free-topology trees recover each projected split. Applying SplitAligner to 2,275 single-copy genes from a dataset of 302 mammals reveals heterogeneous concordance across the mammalian phylogeny and highlights internodes with elevated discordance-associated missingness. The resulting branch coordinate system provides a general framework for branch-based estimates of evolutionary rates, selective constraints, and other branch-wise summaries across thousands of loci/genes.

evolutionary biology↗

Macrophage Iron Metabolism in Allografts and Tumors

Macrophages are present at high frequencies in transplanted organs and solid tumors. These infiltrating macrophages are highly tuned by tissue niche signals. However, the underlying mechanisms that orchestrate the activation of distinct macrophage populations remain unclear. Here, using heart transplantation and tumor implantation models, we found that macrophages in cardiac allografts exhibited higher intracellular iron (Fe2+) level and higher expression of the iron transporter SLC11A1 than those in the solid tumors. In mice, the myeloid-specific deletion of Slc11a1 alleviated the proinflammatory state of macrophages and cardiac allografts rejection. Together, our findings identify SLC11A1 as a new player in immune response regulation, implicating SLC11A1 as a therapeutic target for both allograft and tumor rejection. This preprint reports initial findings; additional experiments are ongoing and will be included in a future full manuscript.

immunology↗

Identification of 4,5,6,7-Tetrabromo-1H-benzotriazole (TBB) as a Small Molecule MESH1 Inhibitor that Suppresses Ferroptosis

Ferroptosis is a regulated form of cell death driven by iron-dependent lipid peroxidation and contributes to diverse pathologies including ischemia-reperfusion injury and neurodegenerative disorders. Current ferroptosis inhibitors largely function as nonspecific radical-trapping antioxidants, limiting their clinical utility. We previously identified MESH1 as a key regulator of ferroptosis through its NADPH phosphatase activity. Here, we identify 4,5,6,7-tetrabromo-1H-benzotriazole (TBB) as a small molecule inhibitor of MESH1 with an IC50 value of 4.7 {+/-} 0.3 {micro}M. X-ray crystallography revealed the molecular determinants of TBB recognition which are corroborated through structure-activity relationships of TBB analogs. TBB protected multiple cell lines against ferroptosis in vitro, and this effect was mitigated by MESH1 knockdown, consistent with on-target activity. Furthermore, TBB reduced neuronal death in an ex vivo brain slice model of Alzheimers disease. Collectively, these findings establish TBB as a bona fide small-molecule MESH1 inhibitor that suppresses ferroptosis and establishes MESH1 as a promising therapeutic target. Graphical AbstractDepicting mechanism of TBB suppressing ferroptosis through the inhibition of MESH1. Figure Created with Biorender.com O_FIG O_LINKSMALLFIG WIDTH=131 HEIGHT=200 SRC="FIGDIR/small/706832v1_ufig1.gif" ALT="Figure 1"> View larger version (35K): org.highwire.dtl.DTLVardef@1fd60e9org.highwire.dtl.DTLVardef@1e56518org.highwire.dtl.DTLVardef@15010c2org.highwire.dtl.DTLVardef@17c313a_HPS_FORMAT_FIGEXP M_FIG C_FIG

biochemistry↗

NaVis: a virtual microscopy framework for interactive, high-resolution navigation of spatial transcriptomics data

Despite the widespread adoption of spatial transcriptomics (ST), revealing the alignment between transcriptional layers and tissue morphology remains technically demanding, typically requiring proficiency across multiple computational frameworks and thereby limiting accessibility for a substantial fraction of the biomedical community. Here, we introduce NaVis (https://github.com/Izzilab/NaVis), a point-and-click virtual microscopy framework that redefines ST analysis as an interactive, image-centric experience. NaVis enables rapid high-resolution inference from low-resolution whole-transcriptome platforms, producing microscopy-like visualizations while preserving transcriptome-wide coverage. It further decomposes histological images into quantitative tissue architecture priors - nuclei-rich regions, fibrillar extracellular matrix, and soft tissue - allowing direct integration of gene expression with local morphology. This unified representation supports analyses of compartment enrichment, boundary concordance, spatial cross-correlation, morphological patterning, histology-expression decoupling, and transcriptome-wide spatial similarity. By coupling transcriptomic and image-derived information within an interactive framework, NaVis shifts ST from static computational workflows to an exploratory modality, broadening its accessibility, conceptual reach and potential for biological discoveries.

bioinformatics↗

Multi-dimensional diffusion MRI at ultra-high gradient strength for mapping axonal architecture and microstructure in the primate brain

We present the most comprehensive sampling of the macaque and human brain with diffusion MRI to date. As part of the BRAIN CONNECTS center for Large-scale Imaging of Neural Circuits, we leverage ultra-high-gradient MRI systems, including the first-of-its-kind Connectome 2.0, for post-mortem acquisitions. Each sample is imaged for [~]250 hours at multiple spatial resolutions down to 0.25 mm isotropic for whole macaque brains and 0.4 mm isotropic for human hemispheres. Our optimized protocols allow us to sample both species across [~]50 diffusion shells varying in b-value, diffusion time, and echo time, reaching ultra-high b-values up to 64000 s/mm2 with high signal-to-noise ratio. We demonstrate that these multi-dimensional data resolve not only white matter connectional architecture but also cortical and subcortical cytoarchitectonic boundaries, at a level of detail previously inaccessible in whole-brain noninvasive imaging. As such, these data are an important resource for both technical development and basic and clinical neuroscience.

neuroscience↗

ProtFlow: Flow Matching-based Protein Sequence Design with Comprehensive Protein Semantic Distribution Learning and High-quality Generation

Designing protein sequences with desired properties is a fundamental task in protein engineering. Recent advances in deep generative models have greatly accelerated this design process. However, most existing models face the issue of distribution centralization and focus on local compositional statistics of natural sequences instead of the global semantic organization of protein space, which confines their generation to specific regions of the distribution. These problems are amplified for functional proteins, whose sequence patterns strongly correlate with semantic representations and exhibit a long-tailed functional distribution, causing existing models to miss semantic regions associated with rare but essential functions. Here, we propose ProtFlow, a generative model designed for comprehensive semantic distribution learning of protein sequences, enabling high-quality sequence generation. ProtFlow employs a rectified flow matching algorithm to efficiently capture the underlying semantic distribution of the protein design manifold, and introduces a reflow technique enabling one-step sequence generation. We construct a semantic integration network to reorganize the representation space of large protein language models, facilitating stable and compact incorporation of global protein semantics. We pretrain ProtFlow on 2.6M peptide sequences and fine-tune it on antimicrobial peptides (AMPs), a representative class of therapeutic proteins exhibiting unevenly distributed activities across pathogen targets. Experiments show that ProtFlow outperforms state-of-the-art methods in generating high-quality peptides, and AMPs with desirable activity profiles across a range of pathogens, particularly against underrepresented bacterial species. These results demonstrate ProtFlows effectiveness in capturing the full training distribution and its potential as a general framework for computational protein design.

bioinformatics↗

Z-RNA-ZBP1 axis drives Tau-mediated neurodegeneration

Although the causes of Tau aggregates vary, once Tau aggregates are formed, their neurotoxicity significantly contributes to neuronal death and cognitive decline in tauopathies, with Alzheimers disease (AD) being the most well-known example. Despite its central pathogenic role, however, effective therapeutic strategies targeting neurotoxicity of Tau remain poor. Here we demonstrate the pathogenic role of neuronal cell death in Tau-related neurodegeneration. Tau-expressing neurons undergo cell death through Z-DNA-binding protein 1 (ZBP1) activation triggered by endogenous Z-RNAs. These Z-RNAs are derived from reactivated transposable elements (TEs) that are typically silenced within heterochromatin. Tau aggregates show a strong affinity for H3K9me3-modified chromatin, effectively sequestering these epigenetic marks from Heterochromatin Protein 1 (HP1), thereby disrupting the condensation of constitutive heterochromatin. Clinically, an inverse correlation between ZBP1 expression levels in excitatory neurons and cognitive performance in AD patients was observed. Importantly, Zbp1 haploinsufficiency significantly ameliorated cognitive deficits in aged Tau-transgenic mice (24-month-old), highlighting the therapeutic potential of ZBP1 inhibition to strive against neurodegeneration in tauopathies.

neuroscience↗