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Biology subjects

Zhong, X.

Publications and source records attributed to Zhong, X..

At least 19 recordsLinked to original sources

De novo design of metalloenzymes using Metal Mer

De novo enzyme design provides a route to create biocatalysts for target reactions, yet achieving high activity and selectivity directly from computation remains challenging. How best to design catalytic sites remains an open question, and enzyme design-metalloenzyme design for new-to-nature transformations in particular-is still limited in success rate, in substrate scope, and in the range of reactions accessible. Here we present a pipeline that produces efficient metalloenzymes directly from computation. It uses Metal Mer, a structural unit mapping backbone geometry to statistically preferred metal coordination modes, to build metal-binding sites with high confidence, and then constructs the catalytic core around the reaction product with geometric restrictions. Using the pipeline, we designed zinc-dependent hydride-transfer enzymes, obtaining a highly selective variant that exhibits enantiomeric excess (ee) >99% on 13 substrates without directed evolution. For steroid substrates bearing multiple carbonyl groups, redesigned variants achieved high regio- and diastereo- selectivity greater than 19:1. Applying this framework to iron-catalyzed alkene difunctionalization, designed variants were active out of the box (10% yield, 70:30 enantiomeric ratio (e.r.)), exceeding a previously reported natural functional analogs (<5% yield, <60:40 e.r.); a single active-site residue mutation further raised selectivity to 96:4 e.r. for several substrates, on par with extensively evolved natural enzymes. The crystal structure of an active design matches the computational model with a backbone RMSD of 0.4 Angstrom, supporting the accuracy of the approach. These results establish our design framework as a general strategy for the de novo design of metalloenzyme series with diverse coordination geometries and coordinating residues, enabling efficient and selective catalysis of challenging chemical transformations.

synthetic biology↗

A public-data reproducibility benchmark of a 2.5-D U-Net with a slice-level topology term for type-B aortic dissection segmentation

Background: Type-B aortic dissection requires separation of the true and false lumina in heterogeneous, anisotropic CTA. A topology term may reduce fragmentation, but its reproducibility must be tested under a fixed case split and independent native-grid evaluation. Methods: We used the public Graz type-B aortic dissection CTA collection (40 cases; CC BY 4.0) and froze a 28/6/6 case split for training, development, and held-out testing. A compact 2.5-D U-Net trained with cross-entropy plus multiclass Dice was compared with the identical model augmented by a fixed-weight (0.5) differentiable slice-level soft clDice term. Two training seeds were run for each arm. All 40 cases passed the NRRD audit; predictions for six held-out cases were restored to their native grids and scored with case-level 3-D voxel-grid Dice, voxel-grid morphological clDice, 6-connected component counts, physical-volume error, and 2,000-resample case-level paired bootstrap intervals. Results: With seed 20261007, topology-minus-baseline differences were -0.028 (95% CI -0.053 to -0.004) for true-lumen Dice, +0.032 (-0.006 to +0.096) for true-lumen voxel-grid clDice, +0.071 (+0.037 to +0.103) for false-lumen Dice, and +0.073 (+0.048 to +0.103) for false-lumen voxel-grid clDice. With seed 20261008, the corresponding differences were -0.040 (-0.065 to -0.018), +0.013 (-0.034 to +0.071), -0.099 (-0.187 to -0.004), and -0.058 (-0.124 to -0.001). Descriptive pooled means over 12 case rows per arm were true-lumen Dice 0.577 for topology versus 0.611 for baseline and false-lumen Dice 0.409 versus 0.422; these pooled rows are not independent cases. Conclusions: Under this fixed six-case test split, the corrected slice-level topology term did not produce a consistent benefit. True-lumen Dice was lower in both seeds, while false-lumen effects reversed direction between seeds; topology-clDice changes were small and/or interval-crossing. The benchmark supports an auditable failure-analysis workflow but does not support a general topology benefit, clinical use, external generalization, or a panvascular decision system.

bioinformatics↗

An AI-powered cloud biofoundry for autonomous biological research

Autonomous experimentation, where an automated system designs, performs, analyzes, and iteratively improves experiments with minimal human intervention represents a transformative scientific research paradigm. However, it remains hampered by the disconnect between computational design and experimental execution. Here we present iCloudBiofoundry, a cloud-accessible, scalable, and self-evolving platform that bridges this divide. A scientific multi-agent system, iBioGenie, plans research workflows by converting natural language research objectives into testable hypotheses and experimentally grounded protocols using literature, databases, and computational tools. A physical AI layer, BiofoundryAI, translates them into executable workflows that run autonomously on distributed robotic biofoundries, and collects the data for iterative design. We demonstrate the end-to-end capabilities of iCloudBiofoundry across three representative case studies spanning enzyme retrieval, protein engineering, and metabolic engineering. By integrating agentic AI with physical AI, iCloudBiofoundry provides a cloud accessible platform that unifies computational design and robotic execution, enabling autonomous biological research.

synthetic biology↗

PanVasc Research for AI assisted evidence analysis in panvascular intervention

Panvascular intervention research requires evidence workflows that preserve source identity, outcome definitions and observation windows. We developed PanVasc Research, an executable research framework, and evaluated a fixed local Qwen3-4B model using two complementary tasks. Fifty ClinicalTrials.gov records from five vascular query strata generated 200 source-fidelity tests with intact evidence or controlled removal of the requested source, primary outcome or timeframe, plus 50 clean controls. A separate 100-statement sample from the official NLI4CT test set assessed clinical-trial entailment and evidence selection against existing expert labels. Generic and checklist prompts used identical evidence and maximum generation budgets; each output was also evaluated with an input-only deterministic contract. Registry exact accuracy was 51/200 (25.5%) with the generic prompt and 77/200 (38.5%) with the checklist; intact-case agreement was 50/50 and 48/50. The rule baseline recovered 200/200 tuples. NLI label accuracy was 48/100 (48.0%) and 50/100 (50.0%), respectively. The source contract retained 35 and 31 incorrect NLI labels in the two arms. Registry references establish fidelity to a registration snapshot, while NLI4CT concerns breast-cancer trials and does not validate vascular expertise. The framework also retains provenance-recorded literature retrieval, structured research planning and local numerical analysis. These experiments support a bounded assessment of source handling and semantic failure, rather than a new foundation model or autonomous scientific discovery. A proposed endpoint representation identifies the additional domain annotation and independent validation required for a panvascular research model.

bioinformatics↗

Structural basis for differential inhibition of THIK1 by chemically related inhibitors

TWIK-related halothane-inhibited potassium channel 1 (THIK1) is a two-pore domain potassium (K2P) channel highly expressed in microglia that contributes to microglial homeostasis and neuroinflammatory responses. Pharmacological inhibition of THIK1 suppresses tonic K+ currents and attenuates NLRP3-dependent IL-1{beta} release, highlighting THIK1 as a potential therapeutic target for neuroinflammatory disorders. However, the structural basis of THIK1 inhibition remains unclear. Here we report cryo-electron microscopy (cryo-EM) structures of full-length human THIK1 in complex with C101248, a commercially available tool compound, and CVN293, a clinical-stage inhibitor that has completed Phase I evaluation. The two inhibitors occupy a similar site within the inner vestibule formed by TM2 and TM4 beneath the selectivity filter. Consistent with their closely related chemical scaffolds and shared binding site, both inhibitors remodel the Y273 inner gate but differ in their effects on the C-terminal gate. Electrophysiological analyses further demonstrate that the C-terminal gate contributes differently to inhibition by the two compounds. Together, our findings show how chemically related inhibitors exert different effects on THIK1 despite engaging a common binding site.

biophysics↗

Plasma proteome screen of individuals with elevated blood counts to identify diagnostic signatures and biomarkers inherent to patients with myeloproliferative neoplasms

BackgroundThe Philadelphia negative myeloproliferative neoplasms (MPN), including essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF), are characterized by myeloid cell proliferation, thrombosis and inflammation. Suspicion of MPN arises from increased blood count in one or more lineages; however, knowledge on the MPN plasma proteome including biomarkers measurable in blood, are lacking. Comparing the plasma proteome of MPN patients to subjects with elevated blood counts but without MPN diagnosis, may provide an increased understanding of the MPN disease biology as well as diagnostic biomarkers measurable in blood. Patients and methodsWe performed plasma proteome profiling in 87 patients referred to the Department of Hematology due to elevated blood counts. Of these, 55 were diagnosed with MPN and 32 did not fulfill MPN diagnostic criteria and thus constituted the non-MPN control group. ResultsThe frequency of thrombosis was equal between the groups. We found 189 differentially expressed proteins between MPN and non-MPN, enriched for Hemostasis and Platelet activation proteins. Using Lasso multiple regression, we identified SORT1, GP1BA, PSPN, MMP1 and BAG6 separating MPN from non-MPN individuals, and TFRC and SEMA7A specific for MPN subtype PV. Interestingly, TFRC alone had a diagnostic accuracy for identifying PV of 89.3%, and when combined with serum erythropoietin it increased to 99.3%. Only two proteins, IL-6 and GH1, were increased in JAK2 mutant MPN compared to JAK2 wildtype MPN. The same trend was seen for JAK2 mutant ET compared to JAK2 wildtype ET, indicating that IL-6 is induced by JAK STAT activation. However, IL-6 levels did not differ between MPN and non-MPN patients. Discussion/conclusionIn conclusion, hemostasis and platelet activation are inherent to MPN disease whereas little difference was found in proinflammatory cytokines between MPN and non-MPN groups. We demonstrate novel potential blood biomarkers for MPN and MPN subtypes, in particular TFRC for identifying PV patients.

cancer biology↗

Orientation Dependence of R2' in White Matter: Digital Characterization, Modelling and Implications for Studying Brain Physiology

PurposeR2*, the transverse relaxation rate, reflects local magnetic field inhomogeneities from susceptibility differences with R2, the reversible component sensitive to blood oxygenation. Orientation dependence of R2 and R2* in white matter (WM) are attributed primarily to myelin, with vascular contributions to R2 uncharacterized. This study examined WM R2 orientation dependence, evaluated existing models, and developed an improved model combining myelin and blood. MethodsSimulations used BOLDswimsuite with 2D WM voxels (5,000 fibres). Spin-echo (TE = 70ms) and gradient-echo (TE = 35ms) signals were simulated across 30 fibre orientations (0{degrees}-90{degrees}). R2' was calculated as R2* - R2. Oxygenation, cerebral blood volume (CBV), vessel size, and vessel geometry were varied. Four published models and a novel Myelin-Blood model were fitted to R2' data and compared using R2 and RMSE. ResultsR2 and R2* showed strong orientation dependence. Parallel and mixed vessel geometries produced greater R2' amplitude and orientation dependence than random geometries; decreasing oxygenation and increasing CBV amplified orientation effects. Vessel size altered peak locations. Existing vascular models performed poorly, and the Empirical Myelin Model erred near the magic angle. The Myelin-Blood model provided near-perfect fits (mean R2 = 0.999, RMSE = 0.007 Hz), reducing RMSE by ~74%. DiscussionWM R2' cannot be explained by vascular or myelin effects alone. Myelin is the primary determinant of orientation dependence, but vascular contributions were evident near the magic angle and low oxygenation. The Myelin-Blood model improves WM R2 characterisation and may reduce orientation-dependent bias and improve interpretation of WM BOLD fMRI signals.

neuroscience↗

Hemodynamic Responses in the White Matter (WM): Reduced Blood Flow in Deep WM During Hypercapnia Revealed by Multi-Delay pCASL in Healthy Young Adults

The white matter (WM) cerebrovascular response remains poorly understood compared with grey matter (GM), partly due to technical challenges in perfusion quantification. Previous studies of cerebrovascular reactivity (CVR) have mostly been performed using BOLD MRI, and it is unclear to what extent they reflect changes in cerebral blood flow (CBF). In this work, we used multi-delay pseudo-continuous arterial spin labeling (pCASL) to quantify hypercapnia-induced CBF changes ({Delta}CBF) while accounting for regional variability in arterial transit time. Twenty-five healthy young adults underwent MRI during normocapnia and hypercapnia (inhalation of a 4% CO2 gas mixture). Hypercapnia induced robust positive {Delta}CBF in cortical GM (26.7 {+/-} 13.5%), superficial WM (17.2 {+/-} 12.6%), periventricular regions (13.6 {+/-} 10.6%), and subcortical GM (25.7 {+/-} 14.1%) (all p < 0.0001). In contrast, deep WM exhibited a near-zero group-mean CBF response (1.0 {+/-} 8.9%, p = 0.57), with 10 of 25 participants demonstrating negative {Delta}CBF. Negative CBF responses were consistently localized to the corona radiata, centrum semiovale, and optic radiation. Quality-control analyses showed that deep-WM {Delta}CBF estimates are robust, supporting the reliability of these findings. Moreover, across tissue compartments, higher baseline CBF was associated with reduced hypercapnic responsiveness, and deep-WM responses were strongly coupled with cortical GM responses across individuals. These results demonstrate that hypercapnia-induced cerebrovascular responses are highly heterogeneous across tissue depths and provide evidence that negative CBF responses can occur in healthy deep WM in the presence of vasodilation elsewhere. The findings challenge the assumption of uniformly positive perfusion responses during hypercapnia and support a potential role for flow redistribution arising from regional differences in vascular resistance and reserve capacity.

neuroscience↗

Metabolic Engineering Boosts Strigolactone Production in Nicotiana benthamiana and Uncovers a Novel P450 Function

Strigolactones (SLs) are plant hormones regulating shoot branching and symbiotic interactions, but their trace-level abundance limits research and applications. Here, we optimized a Nicotiana benthamiana transient expression system for SL production by tuning agroinfiltration parameters and co-expressing rate-limiting carotenoid biosynthetic genes. Overexpression of Zea mays PSY1 or an Arabidopsis PSY-GGPS11 fusion increased carlactone production over 2-fold and enhanced downstream SL accumulation. Using this platform, we discovered that sorghum cytochrome P450 SbCYP728B35 catalyzes conversion of 5-deoxystrigol to sorgolactone, revealing a previously unknown function. These results establish metabolic engineering of precursor supply as an effective strategy for boosting SL production and demonstrate N. benthamiana as a robust system for pathway elucidation and biotechnological synthesis of bioactive strigolactones.

plant biology↗

Intranasal photobiomodulation: an energy efficient paradigm for cortical and subcortical stimulation

Previous studies have shown the hemodynamic response to transcranial photobiomodulation (tPBM) in localized cortical regions during and after forehead irradiation. However, it is unclear if tPBM can reach deeper regions such as subcortical tissue. It is also unclear whether the manner of regional neurovascular coupling predominantly studied using tPBM extends to all brain regions. As an alternative to forehead delivery, intranasal PBM (iPBM) uses the pathway of the cribriform plate, which is thin and directly leads to the orbitofrontal cortex, rather than the prefrontal cortex in the case of forehead PBM. Thus, it is possible that iPBM can stimulate the brain more efficiently (i.e. with less power). In this study, healthy young adults underwent different iPBM protocols differing in wavelength, frequency and irradiance. We utilized functional magnetic resonance imaging (fMRI) to quantify regional blood oxygenation (BOLD) and perfusion. We further model the neurovascular interactions underlying the fMRI response. We uncovered three distinct temporal signatures, varying by brain region. Specifically, a significant response in the thalamus was observed, with a time-locked BOLD response. Overall, iPBM was found to be associated with much higher efficiency at eliciting BOLD fMRI responses than its forehead (tPBM) counterpart. Lastly, in addition to the expected dose dependence, there were extensive sex differences in the fMRI response to iPBM, surpassing those observed for tPBM. Collectively, these findings highlight the feasibility and efficacy of iPBM and establish a foundation for personalizing PBM protocols for optimal outcomes.

neuroscience↗

Elemental Composition and Degradation Rate Impact the Biocompatibility of Copper Chalcogenide Nanocrystals

Copper chalcogenide nanocrystals (NCs) are promising candidates for biophotonic applications due to their tunable optical properties. Concrete methods to examine the relationship between their degradation and toxicity are necessary to enable development of nanoconstructs with reduced toxicity. This study compares the degradation and acute cytotoxicity of three compositions of micelle-coated copper chalcogenide NCs: the fluorescent semiconductor copper indium sulfide (CuInS2), and the plasmonic semiconductors copper sulfide (Cu2-xS) and chalcopyrite copper iron sulfide (CuFeS2). We developed a quantitative degradation assay to assess ion release from these ultra-small nanocrystals, revealing that while all three particles biodegrade, CuInS2 and CuFeS2 undergo rapid degradation in artificial lysosomal fluid, leading to a burst release of indium and iron ions. In cellular toxicity assays, CuInS2 exhibited significantly higher acute cytotoxicity than Cu2-xS and CuFeS2, primarily due to indium-induced necrosis. To mitigate this toxicity, an alternative surface-binding polymer coating was introduced, effectively reducing both the degradation rate and cytotoxicity of CuInS2. These findings highlight the influence of both nanocrystal composition and coating chemistry in moderating the acute cytotoxity of degradable nanocrystals, demonstrating that tuning of composition and degradation rate can be used to moderate nanoparticle toxicity.

pharmacology and toxicology↗

scCotag: Diagonal integration of single-cell multi-omics data via prior-informed co-optimal transport and regularized barycentric mapping

Recent advances in high-throughput single-cell technologies have enabled characterization of cellular states across distinct omics layers, yielding complementary insights into the organization of biological systems. To jointly leverage these disparate modalities, computational methods have been developed to align non-overlapping cell populations profiled in different omics layers, a task known as diagonal integration, thereby facilitating more fine-grained biological interpretations. However, existing integration approaches unrealistically assume that all cells are alignable and treat prior-knowledge-derived feature correspondences as fully reliable, retaining them unrefined throughout the alignment process. In this work, we introduce scCotag, a co-optimal transport (COOT)-based deep learning frame-work for diagonal integration of single-cell multi-omics data, to address these limitations. scCotag first infers cell alignment and feature correspondence with prior-informed COOT in an iterative manner, and then leverages the resulting transport plans to jointly learn cell and feature embeddings via regularized barycentric mapping and graph reweighting. Systematic benchmarking on human brain, bone marrow, and blood single-cell RNA-seq and ATAC-seq datasets demonstrates the overall superior performance of scCotag over state-of-the-art methods in both cell alignment accuracy and embedding accuracy. In particular, scCotag excels in simulated imbalance scenarios where not all cells are alignable. Applying scCotag to data in postmortem brains of Alzheimers disease (AD) and non-AD (NoAD) patients further yields more fine-grained biological interpretation of regulatory mechanisms. Together, these results demonstrate that scCotag provides a robust framework for single-cell diagonal integration and regulatory inference.

bioinformatics↗

Real-time spatial evolution of the fMRI response to photobiomodulation in the healthy human brain

Photobiomodulation (PBM) is a non-invasive therapeutic technique that uses low-level near-infrared light to influence mitochondrial metabolism and stimulate neural function. While PBM is increasingly used to improve cognitive and clinical outcomes, its in vivo physiological mechanisms in humans remain poorly characterized. In this study, we used BOLD-fMRI to investigate and quantify the temporal and spatial dynamics of transcranial PBM-induced brain activity in young, healthy adults, while incorporating multiple stimulation parameters (wavelength, irradiance, frequency) and transcranial delivery sites (right forehead and intranasal). A time-lagged correlation analysis revealed distinct spatiotemporal patterns of positive and negative BOLD responses that evolved over tens of seconds across both cortical surface and subcortical regions during stimulation. Notably, these effects propagated across brain regions that are potentially mediated by functional networks, were dose-dependent, and were modulated by individual skin tone. This work provides the first real-time, whole-brain mapping of PBM-induced hemodynamic changes in humans, offering new insights into dose-response characteristics and delivery-specific dynamics underlying PBM neurophysiology.

physiology↗

High dynamic range shortwave infrared (SWIR) imaging of mice with an InGaAs camera

SignificanceWhile shortwave infrared (SWIR) imaging provides superior tissue penetration and reduced autofluorescence for preclinical applications, quantitative fluorescence analysis is hindered by the limited dynamic range of InGaAs cameras, forcing a focus on either bright or dim anatomical features. AimWe develop a high dynamic range (HDR) imaging method specifically adapted for the high-noise characteristics of InGaAs detectors to enable quantitative fluorescence imaging across wide intensity ranges. We demonstrate that one-time camera calibration based on a series of images encompassing the range of radiance intensities enables all subsequent image processing. ApproachWe modified classical HDR algorithms with exposure-time-dependent dark current subtraction, preprocessing to exclude saturated and noisy pixels before camera response function recovery, and dynamic weighting range adjustment to account for shrinking intensity ranges at longer exposures. HDR image processing effects on preclinical imaging outcomes were analyzed using indocyanine green and SWIR-emitting PbS/CdS quantum dots in mouse models. ResultsHDR imaging achieved a 22 dB improvement in dynamic range over single exposures, enabling simultaneous quantification across more than three orders of magnitude of fluorophore concentration. In vivo studies showed improvements in contrast-to-noise ratios across all anatomical features, with improvements in vascular contrast while maintaining quantitative accuracy. After one-time camera calibrations, this approach enables rapid processing of subsequent datasets. ConclusionsThis software-based HDR SWIR imaging approach eliminates exposure parameter optimization and enables comprehensive biodistribution analysis across all anatomical structures from a single acquisition sequence, significantly streamlining preclinical imaging workflows while preserving quantitative accuracy.

bioengineering↗

Linking Electrophysiological Metrics to Oxidative Metabolism: Implications for EEG-fMRI Association

Resting-state functional magnetic resonance imaging (rs-fMRI) is widely used to study brain function, yet its biophysiological basis remains incompletely understood. Building on our recent work, we investigated how EEG activity and cerebral metabolic rate of oxygen (CMRO2) are related to one another, and how they jointly underpin rs-fMRI metrics. Using a multimodal dataset with macrovascular correction applied to all rs-fMRI metrics, we first examined associations between EEG metrics and CMRO2, then applied mediation analysis to evaluate how CMRO2 mediates EEG-fMRI associations. We found that bandlimited EEG theta and alphafractional power was significantly associated with CMRO2. Bandlimited EEG coherence was also associated with CMRO2 across all the bands. Bandlimited EEG fractional power and coherence were also significantly associated with cerebral blood flow (CBF) and oxygen extraction fraction (OEF) in a manner that varied by frequency. EEG broadband temporal complexity was positively associated with CMRO2 and EEG coherence was negatively associated with OEF. Notably, there are pronounced sex differences in these relationships, which suggests that the biophysical underpinnings of rs-fMRI are sex dependent. Moreover, the baseline metabolic and hemodynamic variables did partially mediate EEG-fMRI associations, with CMRO2 serving as the primary mediator. However, most of the mediations are partial, highlighting the complex interplay among electrophysiological activity, oxidative metabolism, and hemodynamics. This study advances our understanding of the biophysical basis of rs-fMRI and provides a foundation for developing sex-specific diagnostic and therapeutic strategies for neurological disorders.

neuroscience↗

A Tonic Signaling Code Predicts CAR-T Cell Efficacy in Diffuse Midline Glioma

Diffuse midline glioma (DIPG/DMG) is a uniformly fatal pediatric brain tumor with no effective cure. Although CAR T-cell therapy shows promise, clinical outcomes remain inconsistent due to limited persistence and premature exhaustion. Reliable predictive biomarkers are lacking, and proposed exhaustion or stemness markers provide limited utility. Here, we systematically compare multiple CAR-T constructs targeting clinically-relevant antigen B7-H3 and identify antigen-independent CAR activation, or tonic signaling, as a key determinant of therapeutic performance. We find that B7-H3 CAR-T cells with restrained tonic signaling display superior tumor killing, persistence, and resistance to exhaustion, along with reduced CAR membrane clustering, in patient-derived DIPG models. Integrated multi-omics and single-cell profiling further reveal a CAR-T tonic signaling-associated gene signature that outperforms conventional exhaustion or stemness markers in predicting therapeutic efficacy across multiple clinical trials, including DIPG and other tumor types. Together, these findings define a mechanistic and predictive framework to guide CAR design and improve clinical outcomes.

cancer biology↗

A prognostic signature for lung adenocarcinoma in people who have never smoked

Knowledge of tumor cell dynamics can inform prognosis and treatment yet is largely lacking for lung adenocarcinoma in people who have never smoked (NS-LUAD). With RNA-seq data from 684 NS-LUAD and validation in an independent dataset, we identified three subtypes with distinct phenotypic traits and cell compositions. Additional genomic and histological data further characterized the subtypes. Steady, marked by low proliferation, high alveolar cell fraction, moderate-to-well differentiation, and fewer driver genes alterations, is linked to prolonged survival and low immune evasion. Proliferative shows high proliferation markers, TP53 mutations, and gene fusions. Chaotic, with high epithelial-to-mesenchymal transition markers, has the worst prognosis even within stage I tumors. Lacking known molecular or histological characteristics, this aggressive subtype is solely identified by transcriptomic data. A 60-gene signature recapitulates the overall classification and strongly predicts survival even within subgroups based on tumor stage or known genomic features, emphasizing its potential for improving NS-LUAD prognostication in clinical settings. SignificanceThe transcriptome of 684 lung adenocarcinomas in people who have never smoked (NS-LUAD) identifies three subtypes with different cellular dynamics, and genomic and morphologic features. A 60-gene signature accurately stratifies subjects for mortality risk, even in stage I, offering a clinically applicable tool for treatment decision making in NS-LUAD patients.

genomics↗

Exogenous Photoreceptor-Specific N-Glycosylated PROM1 Rescues Retinal Degeneration in Patient and Mouse Models

PROM1 is widely expressed across various tissues. However, its pathogenic mutations are exclusively associated with inherited retinal dystrophy (IRD). The mechanisms underlying this retina-specific vulnerability remain poorly understood, and no effective treatment currently exists for PROM1-IRD. Here, we utilized urine cells, hiPSCs, hiPSC-RPE cells, retinal organoids (ROs) and Prom1-/- mice to address these challenges. During photoreceptor development in ROs, PROM1 co-localized with ciliary marker ARL13B and outer segment (OS) marker PRPH2. It exhibited photoreceptor-specific mRNA splicing isoforms and unique N-glycosylation. In IRD patient-specific models with the PROM1 c.619G>T (p.E207X) homozygous mutation, we observed nonsense-mediated mRNA decay and altered splicing, leading to complete loss of PROM1 protein and OS-like structure disruption, faithfully recapitulating PROM1-IRD pathology. To rescue these defects, we engineered a photoreceptor-specific AAV7m8-CRXp-hPROM1, which successfully restored PROM1 expression and OS-like structures in patient-derived ROs. Therapeutic efficacy was further validated in Prom1-/- mice, where subretinal delivery of AAV8-CRXp-hPROM1 led to photoreceptor-specific expression of human PROM1, significantly preserving OS morphology and improving visual function. These findings not only provide the first solid preclinical evidence supporting gene therapy for PROM1-IRD, but also reveal photoreceptor-specific vulnerability to PROM1 mutations, offering a novel conceptual framework for investigating and treating related IRDs.

neuroscience↗