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Wolfram, L.

Publications and source records attributed to Wolfram, L..

4 recordsLinked to original sources

Effects of protein interface mutations on protein quality and affinity

Accurately modeling antibody-antigen interactions requires distinguishing intrinsic binding affinity ("protein-interaction") from protein biophysical properties ("protein-quality"), including folding, stability, and expression. However, high-throughput mutational measurements commonly used to train and benchmark computational models often conflate these effects, obscuring the true determinants of molecular recognition. Here, we present an experimental and analytical framework to disentangle protein-interaction effects from protein-quality effects in single-domain antibody (VHH)-antigen binding. Using a large-scale deep mutational scanning (DMS) dataset spanning four VHH-antigen complexes, with single and double mutations in both partners, we introduce control binders to quantify protein-quality changes independently of protein-interaction. This enables decomposition of experimentally measured affinity into protein-interaction and protein-quality components at scale. Leveraging the disentangled dataset, we evaluated state-of-the-art structure- and sequence-based models for protein-quality and protein-interaction prediction and show that their performance largely reflects protein-quality rather than protein-interaction effects. Our results highlight a major confounder in current datasets and suggest that accounting for protein-quality will be essential for training next-generation affinity-prediction models. Nomenclature Antibody related termsO_LIPrimary VHH: The VHH of a VHH-antigen complex for which the paratope and the epitope weremutated. C_LIO_LIControl VHH: A second VHH that binds to the same antigen as the primary VHH but has non-overlapping epitope positions and therefore does not bind to any of the mutated antigen positions. C_LI Affinity-related termsO_LIReal Affinity: "The strength of the interaction between two [...] molecules that bind reversibly (interact)" 1. In the context of antibody-antigen binding, it quantifies interactions between active proteins (which are expressed and correctly folded 2 and are therefore functionally and biologically active (see below). It is commonly quantified by the equilibrium dissociation constant, KD. C_LIO_LIObserved affinity ({degrees}KD): The interaction strength experimentally measured between two molecules. Unlike real affinity, this value is confounded by the biophysical properties of the individual binding partners, specifically their folding, stability, and expression levels. Consequently, the observed affinity often differs from the real/intrinsic affinity if a significant fraction of the protein population is inactive 3. NOTE: Unless otherwise specified, {degrees}KD is reported in - log10 space. For example, a {degrees}KD of -9 corresponds to 10-9M or 1nM. C_LIO_LIChange in observed affinity ({Delta}{degrees}KD): The shift in the observed affinity between two proteins upon mutation, reported as the log10-transformed fold change. A value of 1 reflects a 10-fold difference, a value of 2 a 100-fold difference, etc. This aggregate change resolves into two distinct biophysical components 2, 4: O_LIProtein-interaction change: The change in the intrinsic thermodynamic affinity between the two binding partners, each in its active state (i.e., the specific change in interface Gibbs free energy because both enthalpy and entropy are considered). C_LIO_LIProtein-quality change: The change in the fraction of the mutated protein population that is biologically active - meaning it is expressed, correctly folded, and stable 2, 5. O_LIFolding: The process that guides the polypeptide chain toward its native conformation, which is a prerequisite for forming a functional binding site. C_LIO_LIStability: The thermodynamic capacity to maintain the folded structure over time and under physiological conditions. Stability (decrease in Gibbs free energy from the unfolded to the folded state) ensures the binding interface remains intact and prevents competing processes such as aggregation 6. C_LIO_LIExpression: The steady-state abundance of the protein. This is largely dependent on proper folding and stability, as cellular quality control mechanisms degrade proteins that fail to fold or remain stable at functional concentrations. C_LI C_LI C_LIO_LIChange in relative affinity ({Delta}{Delta}{degrees}KD): the difference between the {Delta}{degrees}KD of the primary VHH compared to the control VHH for a given epitope mutation. C_LI Model-related termsO_LIESM-IF1 sc: Single-chain (sc) structure-conditioned inverse folding model (ESM-IF1), using the isolated monomer structure of the mutated protein: either the VHH or the antigen 7. C_LIO_LIESM-IF1 mc: Multi-chain (mc) structure-conditioned model (ESM-IF1), using the full complex structure (both antibody and antigen) 7. C_LIO_LIStability prediction score: Score that represents the predicted change in stability based on a single mutation, normally represented as {Delta}{Delta}G. C_LI

molecular biology↗

MS-BCR-DB: an integrated BCR repertoire database to mine humoral multiple sclerosis signatures

Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system (CNS) in which B cells play a critical role. While B-cell receptor (BCR) sequencing studies in MS are increasing, progress in understanding MS-associated BCR repertoire features and convergent patterns across patients has been limited by small cohorts, heterogeneous experimental methodologies, and fragmented data storage. To overcome these challenges, we developed the MS-BCR-Database, the first publicly accessible and uniformly processed collection of human MS BCR sequencing datasets. We harmonized raw BCR-sequencing data into an AIRR-compliant database incorporating clinical and technical metadata, enabling coherent cross-study analyses. Using this resource, we identified putative disease-associated BCR-sequence features, including CNS-biased V-gene usage, marked oligoclonal expansion in cerebrospinal fluid, and convergent clonotype clusters shared exclusively among MS patients. Integration with antigen-annotated BCR databases revealed matches to antibodies recognizing both viral antigens, including Epstein-Barr virus, and CNS self-proteins. The MS-BCR-Database provides a scalable foundation for mechanistic discovery and biomarker development in MS, while establishing a broadly applicable resource for integrative analyses of BCR repertoires.

bioinformatics↗

Fixel-Based Analysis reveals microstructural visual pathway changes associated with retinal remodeling in retinitis pigmentosa

Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, traditionally considered a photoreceptor degenerative disorder. However, the relationship between retinal degeneration and structural alterations along central visual pathways remains poorly understood. We investigated possible structural links across the retinocortical pathway in 15 genetically characterized RP patients (RHO, PDE6A, PDE6B mutations) compared with 22 healthy controls, using spectral-domain optical coherence tomography (SD-OCT) combined with diffusion-weighted MRI and fixel-based analysis (FBA). Retinal segmentation revealed marked outer layer thinning (outer nuclear layer: -55% foveal, -77% parafoveal) with significant inner layer thickening at the fovea (inner plexiform layer +29%, inner nuclear layer +40%). Parafoveal regions showed near-complete photoreceptor loss but inner retinal thickness approaching normal values. FBA demonstrated significant fiber density reductions in optic tracts and optic radiations, without corresponding macrostructural changes in tract cross-section, suggesting early microstructural disruption preceding atrophy. Correlation analyses revealed significant associations between parafoveal inner plexiform layer thickness and fiber density in both optic tracts (r=0.856) and radiations (r=0.768), with no correlations observed at the foveal level. These findings demonstrate complex, region-specific retinal remodeling in RP, likely reflecting Muller cell gliosis rather than mechanical compensation. The fiber density reduction without tract atrophy suggests trans-synaptic degeneration along visual pathways. This multimodal framework provides insights into structural propagation in inherited retinal dystrophies and may serve as a biomarker for evaluating therapeutic interventions aimed at photoreceptor restoration.

neuroscience↗

Impaired function and delayed regeneration of dendritic cells in COVID-19

Disease manifestations in COVID-19 range from mild to severe illness associated with a dysregulated innate immune response. Alterations in function and regeneration of dendritic cells (DC) and monocytes may contribute to immunopathology and influence adaptive immune responses in COVID-19 patients. We analyzed circulating DC and monocyte subsets in 65 hospitalized COVID-19 patients with mild/moderate or severe disease from acute disease to recovery and in healthy controls. Persisting reduction of all DC subpopulations was accompanied by an expansion of proliferating Lineage- HLADR+ cells lacking DC markers. Increased frequency of the recently discovered CD163+ CD14+ DC3 subpopulation in patients with more severe disease was associated with systemic inflammation, activated T follicular helper cells, and antibody-secreting cells. Persistent downregulation of CD86 and upregulation of PD-L1 in conventional DC (cDC2 and DC3) and classical monocytes associated with a reduced capacity to stimulate naive CD4+ T cells correlated with disease severity. Long-lasting depletion and functional impairment of DCs and monocytes may have consequences for susceptibility to secondary infections and therapy of COVID-19 patients.

immunology↗