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Angulo, J.

Publications and source records attributed to Angulo, J..

12 recordsLinked to original sources

Structural Basis for Human Milk Oligosaccharides Recognition by Evolutionarily Dominant Norovirus Genogroup II Genotypes

Human noroviruses are a major cause of acute gastroenteritis. Human milk oligosaccharides (HMOs) contain glycan motifs similar to histo-blood group antigens and may act as soluble decoys that reduce viral attachment. However, the molecular basis of HMO recognition by the P domain of the major capsid protein VP1 of different norovirus genotypes is not fully understood. Here, we combined ligand-based and protein-based NMR experiments with X-ray crystallography to study HMO binding to the P domain of the latent GII.2, dominant GII.4 and emerging GII.17 noroviruses genotypes. Screening of 12 HMOs by STD NMR showed binding of all fucosylated HMOs to GII.4 and GII.17 and none for non-fucosylated HMOs. In contrast, GII.2 showed little or no detectable binding under the same conditions. Seven crystal structures of GII.4 or GII.17 with complexed HMOs supported fucose anchoring via five conserved residues. The remaining sugar moieties formed genotype-specific secondary interactions with an extended, shallow and solvent exposed binding surface whose shape is dictated by divergent surface loops. GII.4 recognition is mainly driven by hydrogen bonds whereas GII.17 relied more strongly on water-mediated interactions. Chemical shift perturbation from NMR titrations (CSP NMR) of GII.4 corroborated the fucose interactions and gave dissociation constants of 20-33 mM, consistent with weak and rapidly exchanging interactions.

biochemistry↗

An annotation-overlap-flagged rare-disease gene-prioritisation benchmark and PMC index recipe

Benchmarks for rare-disease gene prioritisation are assembled from published clinical cases. Those cases often come from the same publications used to build knowledge-base ("curated") tools, so a curated tool can be scored on its own source literature. This resource makes that circularity measurable. We release a stratified benchmark of 1,047 rare-disease cases from the GA4GH Phenopacket Store v0.1.26. Each case pairs a Human Phenotype Ontology profile with a 50-gene candidate list (one causal gene, 49 distractors) and the causal-gene label, sampled across four operational MONDO-derived disease strata and issued in two case-paired variants: random distractors, and phenotype-similar distractors selected by HPO Resnik similarity. Two case-level metadata layers support fairer evaluation: a per-case flag recording whether a case's source publication is cited in the HPO disease-annotation file, defining an overlap-absent subset (n = 282), and publication-recency strata. We also specify a deterministic, version-pinned recipe for a hybrid dense-plus-sparse retrieval index over approximately 2.25 million PMC Open Access articles (52,777,395 chunks). The resource reports no tool comparisons.

bioinformatics↗

A historical cross-border Andes virus lineage reveals the origin of a cruise ship hantavirus pulmonary syndrome outbreak

Andes virus (ANDV) caused a multi-country outbreak of hantavirus pulmonary syndrome among passengers and crew of a cruise ship in 2026. To investigate the origin and evolutionary history of the virus responsible for the outbreak, we analyzed complete ANDV small (S), medium (M), and large (L) genome segment sequences from Chile alongside outbreak-associated and publicly available genome sequences. Across all three segment-specific phylogenies, the outbreak virus clustered within an ANDV Clade III cluster spanning southern Chile and northern Patagonia in Argentina and were most closely related to a human-derived ANDV (p1236) collected in Los Rios Region of Chile in 2012, representing the closest known historical relative of the outbreak-associated virus. Phylogeographic analysis showed that the genetically distinct ANDV Clade V lineage circulating in central Chile was not closely related to the cruise ship outbreak-associated genomes, thereby reducing the likelihood that the index cases acquired infection through zoonotic spillover while traveling through the Maule Region. These findings trace the geographic origin of the outbreak-associated virus to a defined corridor, the Hua Hum Pass, a cross-border zone connecting Province of Neuquen in Argentina with the Los Rios and La Araucania Regions of Chile.

evolutionary biology↗

MorphoLearn: A morphology-driven workflow to decipher 3D electron microscopy segmentation in diatoms

Three-dimensional electron microscopy (3D EM) enables the quantitative analysis of cellular ultrastructure. However, large-scale segmentation of whole-cell volumes poses a significant challenge, especially in biologically diverse systems. Unlike medical and animal cell imaging, which often benefit from temporal redundancy and relatively uniform morphology, studies of microbial and microalgal biodiversity must rely on static snapshots. These snapshots exhibit high variability in cell shape, organelle organisation, and image contrast. Consequently, robust AI-assisted segmentation in this context requires models that learn directly from morphological features and can adapt to heterogeneous sample preparation. In this paper, we present a systematic framework for AI-assisted segmentation of Focused Ion Beam-Scanning Electron Microscopy (FIB-SEM) datasets. This framework is specifically designed to address the challenges posed by morphological diversity and contrast variability while remaining within realistic computational constraints. We evaluate multiple lightweight 3D encoder-decoder architectures and identify VNet as the best option for balancing computational efficiency and volumetric accuracy in whole-cell segmentation. Using datasets from two strains of Phaeodactylum tricornutum and extending our analysis to cross-species comparisons, we demonstrate that training on specific regions of interest can lead to an overestimation of model performance. In contrast, performing whole-cell segmentation uncovers significant differences in architectural robustness. Moreover, we show that transfer learning and contrast-aware hybrid strategies allow for efficient adaptation to previously unseen datasets with minimal annotation. The incorporation of boundary-aware loss functions significantly enhances the delineation of closely associated organelles, such as chloroplasts and mitochondria, in multi-class segmentation tasks. Together, these findings establish a scalable, reproducible, and biologically informed AI framework for 3D FIB-SEM segmentation. This framework enables high-throughput analysis of cellular ultrastructure across diverse species and imaging conditions. Author SummaryCells exhibit a wide range of shapes, sizes, and internal structures, particularly among various microbial species. These morphological differences are not arbitrary; they indicate how cells adapt to their environments and manage essential biological functions. Modern three-dimensional electron microscopy can capture this structural diversity at the nanometre scale, but analysing the resulting data is often slow. This is due to the time-consuming process of manually outlining cellular structures, which also requires expert knowledge. Artificial intelligence (AI) has made significant advances in accelerating image analysis in medical and animal cell studies, typically by learning from repeated observations over time. However, studies focusing on microbial and microalgal biodiversity often rely on single snapshots of diverse cells prepared under varying imaging conditions. This complicates automated analysis since AI systems must learn from morphology directly rather than from temporal repetition. In this study, we developed and evaluated an AI-assisted segmentation framework specifically for whole-cell 3D electron microscopy data. By systematically comparing efficient neural network architectures and incorporating transfer learning and contrast-aware strategies, we demonstrate that accurate segmentation can be achieved even with limited training data and standard computing resources. Our approach facilitates faster, scalable, and reproducible analysis of cellular ultrastructure, paving the way for large-scale investigations into cell morphology, adaptation, and diversity across species. Significance statementQuantitative analysis of cellular ultrastructure across species is currently limited by challenges in segmenting large three-dimensional electron microscopy datasets. Unlike medical imaging, which often benefits from artificial intelligence due to its use of temporal repetition and consistent morphology, studies of microbial biodiversity depend on single snapshots that display extreme variations in cell shape and image contrast. This work presents a scalable, morphology-driven AI framework for whole-cell 3D segmentation that is resilient to biological diversity and variations in sample preparation. By enabling accurate analysis with minimal annotations and standard computational resources, this approach enhances access to high-throughput ultrastructural studies and facilitates comparative investigations of cellular adaptation across different species.

cell biology↗

On-cell Saturation Transfer Difference (STD) NMR on ion channels: characterizing negative allosteric modulator binding interactions of P2X7.

P2X7 receptors are important drug targets involved in pathologies ranging from psychiatric disorders to cancer. Being membrane embedded receptors, they are challenging for structural characterisation and at present we only have a small number of X-ray and cryoEM structures for P2X7 bound to antagonists. We demonstrate that Saturation Transfer Difference (STD) NMR on live mammalian cells (on-cell STD NMR) overexpressing P2X7 receptors allows further structural insight on the complexes of P2X7 with two potent negative allosteric modulators, namely AZ10606120 and JNJ-47465567, via the determination of the binding epitope mapping of the interactions e.g. the main region of contact between the ligand and the binding pocket. This approach, reported for the first time on membrane-embedded ion channels, in combination with molecular docking, allows us to propose the first NMR-validated 3D molecular models for two antagonists as bound to human P2X7 receptors, and to correlate the structural knowledge acquired with the pharmacology data. We highlight the transformative potential of this application to aid drug design efforts in a less resource-demanding fashion than X-ray crystallography and cryo-EM and we envisage on-cell STD NMR to fast become an asset for structure-activity-relationship studies helping knowledge-based development of efficient drugs targeting P2X7 and other ion channels/membrane-embedded proteins.

pharmacology and toxicology↗

Deciphering the role of histo-blood group antigens in bovine rotavirus C infection

Rotaviruses (RVs) are the main cause of viral diarrhea among infants, small children, and the young of many animal species. Histo-blood group antigens (HBGAs) are potential RV receptors and glycan composition on mucous surfaces influences host susceptibility and cross-species virus transmission. RVs exhibit genotype-dependent glycan binding and differences are due to sequence modifications in the VP8* domain of the spike protein VP4. Nevertheless, the molecular bases for this genotype-dependent glycan specificity, especially in non-A RVs, are not thoroughly understood. This study delves into how genotypic variations configure a novel binding site in the VP8* of a bovine P[3] rotavirus species C (RVC) strain to recognize H type-2 antigen (H2) and its precursor N-acetyl-lactosamine (LacNAc) using glycan binding assays, crystallography, and STD NMR. Results reveal a specific interaction of bovine P[3] RVC VP8* with H2 and LacNAc, more strongly with the latter. In the P[3] RVC VP8*-H2 interaction, the N-acetyl glucosamine moiety displays significant interaction, while galactose participates moderately and fucose binds weakly. Moreover, the bovine VP8* structure, resolved at 3 [A], shows specific structural features which differ from human RVC, as it contains two additional {beta}-strands ({beta}1 and {beta}2) contributing to {beta}-sheet2 and conformational changes that widens the cleft to allow different carbohydrate binding modes. These subtle changes in both sequence and structure explain the H2 precursor recognition, which is ubiquitous in human neonate intestine and in human and bovine milk, providing insights into P[3] RVC tropism and its potential zoonotic transmission. Author SummaryRotavirus C (RVC) represents an emerging pathogen with the ability to infect both humans and animals. It is widely acknowledged that host glycobiology plays a crucial role in determining susceptibility to RVs. Consequently, a better understanding of the interactions between RVs and carbohydrates is essential to know how the virus causes infection and to develop effective preventive strategies. Recent findings have unveiled the capability of the human RVC genotype P[2] to recognize the type A antigen through the VP8* spike protein although little is known about animal RVC strains. In this study, we describe the capacity of bovine P[3] RVC strain to bind H2 and LacNAc, both HBGAs. We also offer the structural explanation for the glycan differential recognition between human and bovine RVC strains. Our findings offer valuable insights into RVC attachment to host cells and its potential implications for species barriers.

microbiology↗

Fluorinated trehalose analogues for cell surface engineering and imaging of Mycobacterium tuberculosis

The sensitive, rapid and accurate diagnosis of Mycobacterium tuberculosis (Mtb) infection is a central challenge in controlling the global tuberculosis (TB) pandemic. Yet the detection of mycobacteria is often made difficult by the low sensitivity of current diagnostic tools, with over 3.6 million TB cases missed each year. To overcome these limitations there is an urgent need for next-generation TB diagnostic technologies. Here we report the use of a discrete panel of native 19F-trehalose (F-Tre) analogues to label and directly visualise Mtb by exploiting the uptake of fluorine-modified trehalose analogues via the mycobacterial trehalose LpqY-SugABC ATP-binding cassette (ABC) importer. We discovered the extent of modified F-Tre uptake correlates with LpqY substrate recognition and characterisation of the interacting sites by saturation transfer difference NMR coupled with molecular dynamics provides a unique glimpse into the molecular basis of fluorine-modified trehalose import in Mtb. Lipid profiling demonstrated that F-Tre analogues modified at positions 2, 3 and 6 are incorporated into mycobacterial cell-surface trehalose-containing glycolipids. This rapid one-step labelling approach facilitates the direct visualisation of F-Tre-labelled Mtb by focused ion beam (FIB) secondary ion mass spectrometry (SIMS), enabling pathogen specific detection. Collectively, our findings highlight that F-Tre analogues have potential as tools to probe and unravel Mtb biology and can be exploited to detect and image TB.

microbiology↗

Vitamin D deficiency induces erectile dysfunction: role of superoxide

Epidemiological studies suggest a relationship between vitamin D deficiency and erectile dysfunction (ED) but its causal relationship and the mechanism involved are unclear. Here we demonstrate that isolated corpora cavernosa (CC) from human donors with low vitamin D levels show reduced NO-dependent erectile function. This ED is also reproduced in vitamin D deficient rats and vitamin D receptor knockout mice in vivo and ex vivo and is associated with penile fibrosis. Vitamin D deficiency also blunts the response of CC to the phosphodiesterase 5 inhibitor sildenafil. CC from deficient rats show increased superoxide and their impaired erectile function is restored by superoxide scavengers. These results suggest that vitamin D deficiency induces ED via increased superoxide production.

pharmacology and toxicology↗

Impaired photoprotection in Phaeodactylum tricornutum KEA3 mutants reveals the proton regulatory circuit of diatoms light acclimation.

Diatoms are amongst the most successful clades of oceanic phytoplankton, significantly contributing to photosynthesis on Earth. Their ecological success likely stems from their ability to acclimate to changing environmental conditions, including e.g. variable light intensity. Diatoms are outstanding at dissipating light energy exceeding the maximum photosynthetic electron transfer (PET) capacity of via Non Photochemical Quenching (NPQ). While the molecular effectors of this process, as well as the role of the Proton Motive Force (PMF) in its regulation are known, the putative regulators of the PET/PMF relationship in diatoms remain unidentified. Here, we demonstrate that the H+/K+ antiporter KEA3 is the main regulator of the coupling between PMF and PET in the model diatom Phaeodactylum tricornutum. By controlling the PMF, it modulates NPQ responses at the onset of illumination, during transients and in steady state conditions. Under intermittent light KEA3 absence results in reduced fitness. Using a parsimonious model including only two components, KEA3 and the diadinoxanthin de-epoxidase, we can describe most of the feedback loops observed between PET and NPQ. This two-components regulatory system allows for efficient responses to fast (minutes) or slow (e.g. diel) changes in light environment, thanks to the presence of a regulatory Ca2+-binding domain in KEA3 that controls its activity. This circuit is likely finely tuned by the NPQ effector proteins LHCX, providing diatoms with the required flexibility to thrive in different ocean provinces. One sentence summaryThe author(s) responsible for distribution of materials integral to the findings presented in this article in accordance with the policy described in the Instructions for Authors (https://academic.oup.com/plcell/pages/General-Instructions) is Giovanni Finazzi.

plant biology↗

Targeted mutagenesis of the Arabidopsis GROWTH-REGULATING FACTOR (GRF) gene family suggests competition of multiplexed sgRNAs for Cas9 apoprotein

Genome editing in plants typically relies on T-DNA plasmids that are mobilized by Agrobacterium-mediated transformation to deliver the CRISPR/Cas9 machinery. Here, we introduce a series of CRISPR/Cas9 T-DNA vectors for minimal lab settings, such as in the classroom or citizen science projects. Spacer sequences targeting genes of interest can be inserted as annealed short oligonucleotides in a single straightforward cloning step. Fluorescent markers expressed in mature seeds enable reliable selection of transgenic as well as transgene-free individuals using a combination of inexpensive LED lamps and colored-glass alternative filters. Testing these tools on the Arabidopsis GROWTH-REGULATING FACTOR (GRF) gene family, we found that Cas9 expression from an EGG CELL1 (EC1) promoter resulted in tenfold lower mutation rates than expression from a UBIQUITIN10 (UBQ10) promoter. A collection of bona fide null mutations in all nine GRF genes could be established with little effort. Finally, we explored the effects of simultaneously targeting two, four and eight GRF genes on the rate of induced mutations at each target locus. Multiplexing caused strong interference effects: while mutation rates at some loci remained consistently high, mutation rates at other loci dropped dramatically with increasing number of single guide RNA species. Our results suggest potential detrimental genetic interaction between induced mutations as well as competition of CRISPR RNAs for a limiting amount of Cas9 apoprotein.

plant biology↗

Structural basis of glycerophosphodiester recognition by the Mycobacterium tuberculosis substrate-binding protein UgpB

Mycobacterium tuberculosis (Mtb) is the causative agent of tuberculosis (TB) and has evolved an incredible ability to survive latently within the human host for decades. The Mtb pathogen encodes for a low number of ATP-binding cassette (ABC) importers for the acquisition of carbohydrates that may reflect the nutrient poor environment within the host macrophages. Mtb UgpB (Rv2833) is the substrate binding domain of the UgpABCE transporter that recognises glycerophosphocholine (GPC) indicating a potential role in glycerophospholipid recycling. By using a combination of saturation transfer difference (STD) NMR and X-ray crystallography we report the structural analysis of Mtb UgpB complexed with GPC and have identified that Mtb UgpB is promiscuous for other glycerophosphodiesters. Complementary biochemical analyses and site-directed mutagenesis define the molecular basis and specificity of glycerophosphodiester recognition. Our results provide critical insights into the structural and functional role of the Mtb UgpB transporter and reveal that the specificity of this ABC-transporter is not limited to GPC therefore optimising the ability of Mtb to scavenge scarce nutrients and essential glycerophospholipid metabolites during intracellular infection.

biochemistry↗

Single nucleotide variant at the alphaVbeta3 integrin associated to Andes virus infection susceptibility.

BackgroundANDV, agent of hantavirus cardiopulmonary syndrome, enters through integrin cell protein. A change from leucine-to-proline at residues 33 in the PSI-domain (L33P) inhibits ANDV recognition. We assessed the association between this human-variant and ANDV infection.\n\nResultsWe defined susceptible genotype to \"TT\" (coding leucine) and protective \"CC\" (coding proline). TT was in 89.2% (66/74) of a first cohort of ANDV-cases and in 60% (63/105) of exposed close-household contacts who remained unifected (p<0.05). Protective genotype was absent in all 85 ANDV cases in both cohorts and was present at 11.4% in exposed close-household contacts who remained uninfected. Logistic regression modeling to become a case had an OR 6.2-12.6 (p<0.05) in presence of TT and ANDV well-known risk activities. Moreover, OR of 7.3 was obtained when TT condition was analyzed for two groups exposed to the same environmental risk.\n\nConclusionHost genetic background has an important role in ANDV-infection susceptibility in the studied population.\n\nAuthor summaryHantavirus is a worldwide infection known to cause two different diseases: the hemorrhagic fever with renal syndrome (HFRS) and hantavirus cardiopulmonary syndrome (HCPS or HPS), diseases seen in the old world and new world hantaviruses, respectively. Andes orthohantavirus (ANDV), is the etiological agent of HCPS in Chile and South of Argentina, and is the only hantavirus recognized to be transmited person-to-person. It has been suggested that {beta}3-integrin is a cellular receptor for ANDV entry into cells. Here we try to understand the role of one human genetic variant of {beta}3-integrin in susceptibility to ANDV-infection. We compared, exposed infected and non infected subjects, and their genotype differences regarding a {beta}3 integrin variant that change a Leucine to Proline at PSI domain of the receptor. Leucine and proline aminoacids at the PSI domain, turn the cell susceptible or resistant to ANDV-infection, respectively. We were able to show genotype differences in cases and close-household contact that suggest differences in ANDV-infection susceptibility. Our results propose that the TT genotype, that codes to leucine, is a risk factor to become infected with ANDV, and the CC genotype that codes for proline at PSI domain, is a protective factor. (193/200)

microbiology↗