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Schneider, R.

Publications and source records attributed to Schneider, R..

At least 19 recordsLinked to original sources

Swe1 delays cell cycle progression during impaired mitochondrial inheritance to promote mitochondrial homeostasis

Mitochondrial homeostasis is essential for cellular health. To maintain mitochondrial homeostasis in proliferating cells, mitochondrial inheritance to daughter cells must be tightly coordinated with growth and cell division. In budding yeast, mitochondrial inheritance is ensured by active transport into the growing bud. Although inheritance defects are well known to affect cell physiology, the regulatory mechanisms linking mitochondrial inheritance to cell cycle control remain unclear. Here, we use the inheritance defect of cells depleted of the mitochondrial inheritance adaptor Mmr1 to investigate this coordination. Time-resolved analysis of more than 8,000 budding events revealed that budding duration is directly linked to the time of mitochondrial inheritance. To understand the underlying mechanism, we performed a genetic interaction screen using the auxin-inducible degron library. Strains depleted of cell cycle regulators, particularly those involved in mitotic progression, were highly enriched in clones with synthetic growth defects. Among these, Swe1, the bud morphogenesis checkpoint kinase, emerged as a key candidate affecting budding duration in response to impaired mitochondrial inheritance. Co-depletion of Mmr1 and Swe1 strongly reduces the mitochondrial inheritance-dependent lengthening of budding duration, leading to a large fraction of daughter cells with insufficient mitochondrial content. Thus, Swe1-mediated mitotic delay contributes to slowing cell cycle progression in response to defective mitochondrial inheritance. We suggest calling this regulatory loop MIBA: mitochondrial inheritance-dependent budding adaptation. Together, our findings reveal a mechanism by which cells couple mitochondrial inheritance to cell cycle progression and highlight the importance of this coupling for mitochondrial homeostasis across the population.

cell biology↗

Retrograde signalling mediates cellular adaptation to mitochondrial DNA copy number alterations

Eukaryotic cells maintain multiple copies of the mitochondrial genome, which is essential for cellular metabolism. Accordingly, alterations in the mitochondrial DNA (mtDNA) copy number are associated with severe human diseases and ageing. However, the mechanisms through which cells regulate mtDNA copy number and the cellular consequences of altered copy number remain poorly understood. Here, using budding yeast as a model, we show that mtDNA copy number is determined by the amount of three limiting factors, Mip1, Abf2, and Rim1. By synthetically tuning the concentrations of only these three proteins, we can modulate mtDNA dosage inside the cell. This revealed that cells are surprisingly robust to mtDNA copy number alterations, with increased copy numbers even accelerating cell growth. Our findings suggest that this robustness is due to protein dosage compensation and independent regulation of mitochondrial morphology. Mechanistically, we identified a critical role of the retrograde signalling pathway for this adaptation. We show that signalling from mitochondria to the nucleus is upregulated in cells with higher mtDNA copy number, and disruption of this regulation diminishes their faster growth. Taken together, our work reveals regulatory principles that enable cells to adapt to mtDNA copy number alterations.

cell biology↗

User-driven development and evaluation of an agentic framework for analysis of large pathway diagrams

As biomedical knowledge keeps growing, resources storing available information multiply and grow in size and complexity. Such resources can be in the format of molecular interaction maps, which represent cellular and molecular processes under normal or pathological conditions. However, these maps can be complex and hard to navigate, especially to novice users. Large Language Models (LLMs), particularly in the form of agentic frameworks, have emerged as a promising technology to support this exploration. In this article, we describe a user-driven process of prototyping, development, and user testing of Llemy, an LLM-based system for exploring these molecular interaction maps. By involving domain experts from the very first prototyping in the form of a hackathon and collecting both fine-grained and general feedback on more refined versions, we were able to evaluate the perceived utility and quality of the developed system, in particular for summarising maps and pathways, as well as prioritise the development of future features. We recommend continued user-driven development and benchmarking to keep the community engaged. This will also facilitate the transition towards open-weight LLMs to support the needs of the open research environment in an ever-changing technology landscape.

bioinformatics↗

Polyploid cardiomyocytes define disease-specific transcriptional states in the mammalian heart

The adult mammalian heart has a limited regenerative capacity. Following injury, cardiomyocytes undergo a hypertrophic response accompanied by polyploidization, which has been described as a barrier to proliferation and regeneration of the heart1,2. However, the unique molecular programs of polyploidy, or genome multiplied cardiomyocytes, and their influence on the disease-related myocardial remodelling process remains unclear. Here, we integrate single-nuclei and high-resolution spatial multi-omics across human, rat, and mouse hearts to define novel cardiac cell states and their tissue niches in ischemic and non-ischemic heart disease. Computational analysis across scales allowed us to generate detailed networks of the cardiac tissue remodelling process as well as tissue and sub-cellular environments uniquely enriched in polyploid cardiomyocytes or their diploid origins. We identify a conserved, dichotomous transcriptional program distinguishing diploid from polyploid cardiomyocytes. Polyploid cardiomyocytes demonstrated rewired metabolic and chromatin-remodeling transcriptional programs and recapitulate the gene signature of immature human fetal cardiomyocytes. Notably, we observe that polyploid cardiomyocytes--rather than the general myocyte population--are the primary sites of enrichment for major heart-failure drug targets, including the mineralocorticoid, {beta}1-adrenergic, and glucagon-like peptide-1 receptors. Based on our cross-species dataset we further identified TNIK, a Wnt-pathway regulator expressed in polyploid cardiomyocytes across species, as a potential therapeutic target and demonstrate that pharmacological TNIK inhibition improves cardiac function after myocardial infarction in rats. Together, this species-spanning, disease-resolved study redefines cardiomyocyte heterogeneity in heart disease and suggests a therapeutic path to heart failure treatment by targeting polyploid cardiomyocytes.

genomics↗

Sex-specific microRNA regulators of Parkinson disease: insights from cohort-stratified simulations of compensatory pathway dynamics

Parkinsons disease (PD) exhibits sex differences in prevalence, symptom severity, and progression, suggesting distinct underlying molecular mechanisms. However, the pathophysiological mechanisms remain largely obscure, particularly in the context of the post-transcriptional regulations, where microRNAs (miRNAs) suppress the expression of multiple genes. Bulk transcriptomic data often blur these effects, especially when regulatory patterns vary by sex or cell type. miRNAs have emerged as key regulators of PD-related processes, but their complexity demands computational methods that enable capturing the functional impact at the pathway level. In this study, we investigated how sex may affect miRNA-regulated PD pathways using Boolean modeling across two large PD cohorts, the Parkinsons Progression Markers Initiative (PPMI) and the Luxembourg Parkinsons Study (LuxPark). First, differential expression analysis identified significant variations in miRNA expression between the sexes across both cohorts. These miRNAs were analysed to identify molecular pathways that are over-represented among the predicted targets of the dysregulated microRNAs (i.e. enrichment analysis). The enriched pathways were used to build Boolean models to simulate the effects of sex-specific miRNA dysregulation. These simulations showed consistent male-specific impairment in mitochondrial biogenesis, and respiratory chain activity. Mitophagy and oxidative stress response pathways were also disrupted, alongside dysregulation of autophagy-related protein-folding mechanisms. Our findings suggest that sex-specific miRNA dysregulation contributes to differences in molecular patterns in PD by influencing compensatory related pathways and responses. These results highlight the need for sex-stratified approaches in modeling, translational research, and precision medicine strategies for disease-modifying treatments.

systems biology↗

Spatial tumour-immune ecosystems shape the efficacy of anti-PD1 immunotherapy in primary cutaneous melanoma

Intra-tumoral heterogeneity in melanoma arises from dynamic cancer cell plasticity and underlies various mechanisms of immune escape. Here, we combined high-plex immunofluorescence imaging with spatially resolved transcriptomics to map the architecture of melanoma cell states and their interactions with the immune microenvironment in primary cutaneous tumours prior to adjuvant anti-PD1 immune checkpoint inhibitor (ICI) treatment. Computational analyses showed that melanoma cells organise into spatially restricted patches, with a preferential organisation of undifferentiated cells associated with poor ICI efficacy. Neighbouring immune cell composition varied according to cancer cell states, with a crucial involvement of specific subsets of tumour-associated macrophages, driven by signalling pathways involving tumour-derived and microenvironmental cues such as IFN-{gamma} and hypoxia. Integrated spatial analyses further revealed tumour-immune ecosystems that stratify patient outcomes, delineating configurations either associated with ICI efficacy or metastatic relapse. These results uncover the spatial landscape of tumour ecosystems and identify signalling pathways as potential targets for improving the efficacy of ICI in melanoma. HighlightsO_LIMelanoma cell states spatial organization is associated with aPD1 therapy efficacy C_LIO_LISpatial organization of TAM subsets is a crucial determinant of ICI outcome C_LIO_LIMelanoma cells in different states co-localise with functionally distinct TAM subsets C_LIO_LIIdentification of cell-cell communication pathways that underlie tumour-TAM crosstalk C_LIO_LIA balance between tumour-immune ecosystems is associated with aPD1 therapy efficacy C_LI

cancer biology↗

Cerebrospinal fluid-driven ependymal motile cilia defects are implicated in multiple sclerosis pathophysiology

BackgroundMultiple sclerosis is a neurodegenerative autoimmune disorder of the central nervous system (CNS) in which autoreactive immune cells migrate through a damaged blood brain barrier, resulting in focal demyelinating lesions of both the white and grey matter. Of increasing interest is the repeated observation that beyond focal lesions, there are also diffuse, surface-in gradients of pathology in MS, wherein damage is most severe directly adjacent to cerebrospinal fluid (CSF)-contacting surfaces, such as the subpial and periventricular areas. This observation suggests that toxic factors within MS CSF may be contributing to the emergence and/or evolution of surface-in gradients. Directly separating the CSF from the periventricular parenchyma are ependymal cells - a glial epithelium that are equipped with tufts of motile cilia which are critical for circulating CSF solutes and regulating local fluid flow. While damage to ependymal cilia has the potential to drastically modify CSF homeostasis and thus contribute to the damage of CSF exposed regions, these motile cellular structures have yet to be investigated in the context of MS. MethodsWe first conducted single cell RNA sequencing of fresh human periventricular brain tissue containing ependymal cells from MS patients and non-MS disease controls. We subsequently collected CSF from MS patients and exposed cultured rodent ependymal cells to this CSF in order to evaluate impact on ependymal ciliary function. To complement our direct evaluation of cilia in the context of MS, we also confirmed whether cilia were altered in a classic animal model of MS, experimental autoimmune encephalomyelitis (EAE), and also designed a novel transgenic animal model to evaluate the cellular and behavioural effect(s) of adult ependymal ciliary disruption. ResultsSingle cell RNA sequencing analysis of human ependymal cells in MS demonstrated largescale dysregulation of ciliary genes and in situ stains of MS brain tissue confirmed a loss of ependymal cilia. Exposure of ependymal cells to MS CSF led to transcriptional modification of ciliary gene and protein expression and reduced ciliary beating frequency. Likewise, analysis of ependymal cells in EAE also demonstrated altered cilia gene and protein expression. Conditional knockout in adult mice, of the critical cilia-associated gene Ccdc39 in ependymal cells led to transient ventricular enlargement, increased periventricular microglial density, and alterations in nesting behaviour. ConclusionThese data suggest that motile cilia in ependymal cells are dysregulated in CNS autoimmunity. More importantly, however, they provide evidence to suggest that ependymal cilia disruption could play an active role in the development of periventricular pathology in MS and can lead to behavioural deficits that may underlie aspects non-motor MS symptomatology.

neuroscience↗

The epigenetic regulator TRIM24 controls melanoma cell dedifferentiation and resistance to treatment in melanoma

Cancer cell plasticity plays a key role in tumor progression and treatment resistance in melanoma. While the transcriptional programs enabling adaptative switching between melanocytic and mesenchymal phenotypes are well characterized, unravelling druggable epigenetic regulators that sustain melanoma cell adaptation and resistance remains crucial. Herein, we identified TRIM24, a bromodomain protein frequently upregulated during melanoma metastatic progression, as a crucial regulator of melanoma cell plasticity towards invasive/resistant states. shRNA-mediated knock-down of TRIM24 or degradation using a TRIM24-specific PROTAC decrease the migratory capacities and increase the sensitivity to BRAF inhibitors of melanoma cells. Integration of transcriptomic (RNA-seq) and epigenomic (ATAC-seq, CUT&Tag) analyses reveals that TRIM24 reprograms the epigenome of melanoma cells, promoting mesenchymal and repressing melanocytic transcriptional programs. We further define a TRIM24-specific transcriptional signature, that is consistently enriched in treatment-resistant mesenchymal subpopulations in melanoma single-cell RNA-seq datasets. Accordingly, analysis of TRIM24 protein expression in melanoma patients highlights that high TRIM24 expression correlates with relapse to adjuvant immunotherapy. Finally, TRIM24 knock-down in immunocompetent mouse models synergises with immune checkpoint inhibitors. Overall, our findings spotlight TRIM24 as a major epigenetic regulator driving melanoma cell dedifferentiation and resistance to therapy, representing a promising druggable target to reverse phenotype switching and resensitize to treatment.

cancer biology↗

Association of ulcerative colitis with atopic dermatitis: identification of shared and unique mechanisms by construction and computational analysis of disease maps

Background and AimsUlcerative colitis (UC) and atopic dermatitis (AD) are immune-mediated inflammatory diseases with limited treatment options. They are known to be related which may explain higher risk of development of UC in patients with AD. The goal of this work is to review and analyse molecular mechanisms of UC in comparison to AD towards insights into UC complexity, potential comorbidities and novel therapies. MethodsWe developed graphical computational models of UC and AD molecular mechanisms (disease maps) by integrating information from over 800 manually curated articles. The maps are available online at https://imi-immuniverse.elixir-luxembourg.org. Disease-specific risk variants and gene expression profiles are visualised to identify signatures specific to UC, and shared with AD. Computational analysis shows key proteins, their interactions and pathways shared between UC and AD. ResultsUC and AD maps include more than 2000 molecular interactions. Systematic computational comparison shows that both disorders exhibit epithelial barrier dysfunction, immune dysregulation involving abnormal Th2, Th1 and ILC response, common inflammatory pathways and biomarkers such as IL-13, IL-4R, IFNG, and IL-18. Visualisation and analysis of omics data demonstrates UC map usability. ConclusionsWe developed the first computational graphic model of UC molecular mechanisms. Its content focuses on mechanisms of epithelial barrier disruption and downstream immune dysregulation through cytokines and other mediators. The comparison of UC to AD mechanisms demonstrates common signalling pathways and biomarkers, and supports potential drug repurposing and treatment options. The workflow can be reused and new findings can be dynamically integrated into the maps. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=113 SRC="FIGDIR/small/650149v1_ufig1.gif" ALT="Figure 1"> View larger version (59K): org.highwire.dtl.DTLVardef@1c4c80eorg.highwire.dtl.DTLVardef@2a1e66org.highwire.dtl.DTLVardef@131ece3org.highwire.dtl.DTLVardef@b74971_HPS_FORMAT_FIGEXP M_FIG O_FLOATNOGRAPHICAL ABSTRACTC_FLOATNO C_FIG

bioinformatics↗

FAIRification of computational models in biology

Computational models are essential for studying complex systems which, particularly in clinical settings, need to be quality-approved and transparent. To enhance the communication of a models features and capabilities, we propose an adaptation of the Findability, Accessibility, Interoperability and Reusability (FAIR) indicators published by the Research Data Alliance to assess models encoded in domain-specific standards, such as those established by COMBINE. The assessments guide FAIRification and add value to models.

systems biology↗

The carnosinase dipeptidase CNDP1 is a novel metabolic vulnerability in brain metastasis

Brain metastatic cells undergo metabolic adaptations, such as increased reliance on oxidative phosphorylation. Integrating proteomic and transcriptomic profiling of patient samples revealed a consistent upregulation of the carnosine dipeptidase-1 (CNDP1) in brain versus extracranial metastases. Carnosine is an abundant metabolite in brain and muscle, known to exert anti-proliferative effects on cancer cells. Here, we demonstrate that CNDP1 inhibition suppresses both the establishment and maintenance of melanoma brain metastasis while its ectopic expression is sufficient to confer brain metastatic potential to poorly metastatic cells. CNDP1 suppression results in activation of the Integrated Stress Response via Heme-Regulated Inhibitor Kinase and reprogrammed translation towards preferential expression of mitochondrial and survival transcripts. We further show that CNDP1 upregulation supports mitochondrial activity by limiting the levels of its substrate carnosine, a copper ionophore, thus protecting metastatic cells from carnosine-induced copper toxicity. Our studies reveal a novel metabolic adaptation during brain metastasis, which can be leveraged for therapeutic purposes.

cancer biology↗

The inflammatory skin disease map (ISD map): an interactive computational resource focused on psoriasis and atopic dermatitis molecular mechanisms

BackgroundInflammatory skin diseases (ISD), including atopic dermatitis (AD) and psoriasis (PsO), emerge from a complex network of inter- and intracellular biochemical interactions under the influence of genetic and environmental factors. The complexity of ISD mechanisms hinders translation of research findings into effective treatments and may explain the low remission rates despite the availability of modern targeted therapies. ObjectiveTo model AD- and PsO-associated mechanisms as networks of context-specific molecular interactions, the so-called ISD map, and to check the usefulness of this map as a graphically guided review of AD and PsO mechanisms and as a mechanistic hypothesis-generating platform. MethodsThe ISD map was built by assembling mechanistically resolved causal interactions obtained from relevant biomedical literature via manual curation. ResultsWe demonstrate that the ISD map (https://imi-biomap.elixir-luxembourg.org/) serves as an interactive, graphical review of AD and PsO molecular mechanisms and as a mechanistic hypothesis-generating platform. By analysing the map structure itself or the map integrated with genetics and functional genomics data, we could generate the following mechanistic hypotheses: (i) AD poor response to dupilumab is associated with a potential upregulation of IFNG, IL22, TSLP, IL-17A and IL25 signalling pathways in keratinocytes and/or single nucleotide polymorphisms (SNPs) in genes encoding regulators of IFNG expression in Th1 cells and (ii) PsO resistance to cytokine-induced apoptosis is associated with SNPs in IFNG signalling genes regulating SOCS1 in keratinocytes. Finally, the IL4/IL13 pathway in the AD submap of the ISD map was converted into a probabilistic Boolean model to simulate the effects of IFNG in sensory perception of itching after treatment with dupilumab. Our findings suggest that inhibiting both IFNG and IL4R may improve the therapeutic management of itching. ConclusionThe ISD map provides a significant interactive, computationally accessible resource of molecular knowledge on AD and PsO that can be used to graphically review known AD and PsO mechanisms and generate mechanistic hypotheses.

bioinformatics↗

Pro-Inflammatory Molecules Implicated in Multiple Sclerosis Divert the Development of Human Oligodendrocyte Lineage Cells

Background and ObjectivesOligodendrocytes (OL) and their myelin-forming processes are targeted and lost during the disease course of Multiple Sclerosis (MS), targeted by infiltrating leukocytes and their effector cytokines. Myelin repair is considered to be dependent on recruitment and differentiation of oligodendrocyte precursor cells (OPCs). The basis of failure of re-myelination during the disease course of MS remains to be defined. The aim of this study is to determine the impact of pro-inflammatory molecules tumor necrosis factor (TNF) and interferon gamma (IFN{gamma}) on the differentiation of human OPCs. MethodsWe generated human OPCs from induced pluripotent stem cells with a reporter gene under the OL-specific transcription factor SOX10. We treated the cells in vitro with TNF or IFN{gamma} and evaluated effects in terms of cell viability, expression of OL-lineage markers, and co- expression of astrocyte markers. To relate our findings to the molecular properties of OPCs as found in the MS brain we re-analyzed publicly available single nuclear RNAseq datasets. ResultsOur analysis indicated that both TNF and IFN{gamma} decreased the proportion of cells differentiating into the OL-lineage; consistent with previous reports. We now observe the TNF effect is linked to aberrant OPC differentiation. A subset of O4+, reporter-positive cells co- expressed the astrocytic marker Aquaporin-4 (AQP4). On the transcriptomic level, the cells acquire an astrocyte-like signature alongside a conserved reactive phenotype. Analysis of single- nuclear RNAseq datasets from human MS brain revealed a subset of OPCs expressing an astrocytic signature. DiscussionIn the context of MS, these results imply that OPCs are present but inhibited from differentiating along the OL-lineage, with a subset acquiring a reactive and stem-cell like phenotype, reducing their capacity to contribute towards repair. These findings help define a potential basis for the impaired myelin repair in MS and provide a prospective route for regenerative treatment.

neuroscience↗

NUDIX Hydrolases Target Specific Inositol Pyrophosphates and Regulate Phosphate and Iron Homeostasis, and the Expression of Defense Genes in Arabidopsis

Inositol pyrophosphates (PP-InsPs) are important signaling molecules that regulate diverse cellular processes in eukaryotes, including energy homeostasis, phosphate (Pi) signaling, and phytohormone perception. Yet, in plants, the enzymes responsible for their turnover remain largely unknown. Using a non-hydrolysable PP-InsP analog in a pull-down approach, we identified a family of Arabidopsis NUDIX hydrolases (NUDTs) that group into two closely related subclades. Through in vitro assays, heterologous expression systems, and higher-order gene-edited mutants, we explored the substrate specificities and physiological roles of these hydrolases. Using a combination of strong anion exchange (SAX)-HPLC, PAGE, and capillary electrophoresis electrospray ionization mass spectrometry (CE-ESI-MS), we found that their PP-InsP pyrophosphatase activity is enantiomer-selective and Mg2+-dependent. Specifically, subclade I NUDTs preferentially hydrolyze 4-InsP7, while subclade II NUDTs target 3-InsP7, with minor activity against other PP-InsPs, including 5-InsP7. In higher-order mutants of subclade II NUDTs, we observed defects in both Pi and iron homeostasis, accompanied by increased levels of 1/3-InsP7 and 5-InsP7, with a markedly larger increase in 1/3-InsP7. Ectopic expression of NUDTs from both subclades induced local Pi starvation responses (PSRs), while RNA-seq analysis comparing wildtype (WT) and subclade II nudt12/13/16 loss-of-function plants indicates additional PSR-independent roles, potentially involving 1/3-InsP7 in the regulation of plant defense. Consistently, nudt12/13/16 mutants displayed enhanced resistance to Pseudomonas syringae infection, indicating a role in bacterial pathogen susceptibility. Expanding beyond subclade II NUDTs, we demonstrated susceptibility of the 3PP-position of PP-InsPs to enzymatic activities unrelated to NUDTs, and found that such activities are conserved across plants and humans. Additionally, we found that NUDT effectors from pathogenic ascomycete fungi exhibit a substrate specificity similar to subclade I NUDTs. Collectively, our findings reveal new roles for NUDTs in PP-InsP signaling, plant nutrient and immune responses, and highlight a cross-kingdom conservation of PP-InsP-metabolizing enzymes.

plant biology↗

Single-cell imaging reveals a key role of Bck2 in budding yeast cell size adaptation to nutrient challenges

Cell size is tightly controlled to optimize cell function and varies broadly depending on the organism, cell type, and environment. The budding yeast S. cerevisiae has been successfully used as a model to gain insights into eukaryotic cell size control. Multiple regulators of cell size in steady-state conditions have been identified, such as the G1/S transition activators Cln3 and Bck2 and the inhibitor Whi5. Individual deletions of these regulators result in populations with altered mean cell volumes. However, size homeostasis remains largely intact. Here, we show that although the roles of Bck2 and Cln3 for cell size regulation appear largely redundant in steady-state, a switch from fermentable to non-fermentable growth media reveals a unique role for Bck2 in cell size adaptation to changing nutrients. We use live-cell microscopy and machine learning-assisted image analysis to track single cells and their progeny through the nutrient switch. We find that after the switch, bck2{Delta} cells experience longer cell cycle arrests and more arrest-associated enlargement than wild-type, whi5{Delta} or cln3{Delta} cells, indicating that Bck2 becomes the critical G1/S activator in changing nutrients. Our work demonstrates that studying size regulation during nutrient shifts to mimic the dynamic environments of free-growing microorganisms can resolve apparent redundancies observed in steady-state size regulation.

cell biology↗

FROG Analysis Ensures the Reproducibility of Genome Scale Metabolic Models

Genome-scale metabolic models (GEMs) and other constraint-based models (CBMs) play a pivotal role in understanding biological phenotypes and advancing research in areas like metabolic engineering, human disease modelling, drug discovery, and personalized medicine. Despite their growing application, a significant challenge remains in ensuring the reproducibility of GEMs, primarily due to inconsistent reporting and inadequate model documentation of model results. Addressing this gap, we introduce FROG analysis, a community-driven initiative aimed at standardizing reproducibility assessments of CBMs and GEMs. The FROG framework encompasses four key analyses--Flux variability, Reaction deletion, Objective function, and Gene deletion--to produce standardized, numerically reproducible FROG reports. These reports serve as reference datasets, enabling model evaluators, curators, and independent researchers to verify the reproducibility of GEMs systematically. BioModels, a leading repository of systems biology models, has integrated FROG analysis into its curation workflow, enhancing the reproducibility and reusability of submitted GEMs. In our study evaluating 65 GEM submissions from the community, approximately 40% reproduced without intervention, 28% requiring minor adjustments, and 32% needing input from authors. The standardization introduced by FROG analysis facilitated the detection and resolution of issues, ultimately leading to the successful reproduction of all models. By establishing a standardized and comprehensive approach to evaluating GEM reproducibility, FROG analysis significantly contributes to making CBMs and GEMs more transparent, reusable, and reliable for the broader scientific community.

systems biology↗

FAIR assessment of MINERVA as an opportunity to foster open science and scientific crowdsourcing in systems biomedicine

1The Disease Maps Project (https://disease-maps.org) focuses on the development of diseasespecific comprehensive structured knowledge repositories supporting translational medicine research. These disease maps require continuous interdisciplinary collaboration and should be reusable and interoperable. Adhering to the Findable, Accessible, Interoperable and Reusable (FAIR) principles enhances the utility of such digital assets. We used the RDA FAIR Data Maturity Model and assessed the FAIRness of the Molecular Interaction NEtwoRk VisuAlization (MINERVA) Platform. MINERVA is a standalone webserver that allows users to manage, explore and analyse disease maps and their related data manually or programmatically. We exemplify the FAIR assessment on the Parkinsons Disease Map (PD map) and the COVID-19 Disease Map, which are large-scale projects under the umbrella of the Disease Maps Project, aiming to investigate molecular mechanisms of the Parkinsons disease and SARS-CoV-2 infection, respectively. We discuss the FAIR features supported by the MINERVA Platform and we outline steps to further improve the MINERVA FAIRness and to better connect this resource to other ongoing scientific initiatives supporting FAIR in computational systems biomedicine.

systems biology↗

The origin of septin ring size control in budding yeast

The size of organelles and cellular structures needs to be tightly controlled and adjusted to the overall cell size to ensure cell function. A prominent example of a self-assembly process forming a structure whose size scales with cell size is Cdc42-driven cell polarization and subsequent septin ring formation in Saccharomyces cerevisiae. Despite extensive research, the mechanisms that determine Cdc42 cluster and septin ring size are still unclear. Combining computational modeling, live-cell imaging and genetic manipulations, we show here that positive feedback in the polarization pathway, together with the amount of polarity proteins increasing with cell size, can account for the increase of the Cdc42 cluster area with cell size, and as a consequence also the scaling of the septin ring diameter. We demonstrate that in bni1{Delta} cells, which have a larger septin ring compared to wild-type cells but a similarly sized Cdc42-GTP cluster, disruption of F-actin cable assembly and polarization toward the bud site results in diffuse exocytosis, causing septin ring enlargement. Furthermore, we find that in cells with impaired negative feedback in the polarization pathway, the Cdc42-GTP cluster area expands compared to wild-type cells, while the septin ring diameter remains mostly unchanged. This decoupling can be partially explained by a high recruitment rate of septin via polarity factors. Taken together, we provide insights into the origin of septin ring size control, in particular the scaling with cell volume, by integrating new experimental findings and mechanistic models of budding yeast polarization.

cell biology↗