Gabi Kastenmüller

Theobromine is Associated with Slower Epigenetic Ageing

The paper finds that higher serum theobromine levels are associated with slower epigenetic ageing in humans, as measured by GrimAge and DNAmTL.

Insights into Renal Protein Handling Through GWAS of the Human Urine Proteome

This study performs GWAS on the human urine proteome, identifying genetic associations with 20 proteins and linking them to disease risk and gene expression.

The Interpretable Multimodal Machine Learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy

The paper develops an interpretable multimodal machine learning framework to predict distal sensorimotor polyneuropathy using clinical and molecular data, identifying key biomarkers and improving prediction accuracy with additional molecular modalities.

Interlaboratory comparison of standardised metabolomics and lipidomics analyses in human and rodent blood using the MxP(R) Quant 500 kit

This study evaluates the interlaboratory reproducibility of the MxP(R) Quant 500 metabolomics/lipidomics kit across human and rodent blood samples, showing high consistency and reliability.

Complex patterns of multimorbidity associated with severe COVID-19 and Long COVID

The paper identifies 679 diseases associated with increased risk for severe COVID-19 and Long COVID using UK Biobank health records, highlighting complex multimorbidity patterns and genetic risk loci.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

The landscape of metabolic brain alterations in Alzheimer's disease

This study identifies widespread metabolic dysregulation in Alzheimer's disease brain tissue, linking it to tau pathology and highlighting potential pathomechanisms.

Comprehensive genetic analysis of the human lipidome identifies novel loci controlling lipid homeostasis with links to coronary artery disease

This study identifies 667 genetic loci associated with lipid species and links 186 of them to coronary artery disease through integrative lipidomics and genomics.

Indoxyl sulfate, a gut microbiome-derived uremic toxin, is associated with psychic anxiety and its functional magnetic resonance imaging-based neurologic signature

The paper links indoxyl sulfate, a gut microbiome-derived metabolite, to anxiety symptoms and specific brain connectivity patterns in patients with depression.

Correlation guided Network Integration (CoNI) reveals novel genetic regulators of hepatic metabolism

CoNI integrates multi-omics data to identify genetic regulators of hepatic metabolism, validating several candidates in human liver cells and biopsies.

Alterations in Acylcarnitines, Amines, and Lipids Inform about Mechanism of Action of Citalopram/Escitalopram in Major Depression

The paper uses targeted metabolomics to analyze changes in acylcarnitines, amines, and lipids in response to citalopram/escitalopram treatment in MDD patients, identifying metabolic correlates of treatment response.

A strategy to incorporate prior knowledge into correlation network cutoff selection

This paper introduces a cutoff selection algorithm for correlation networks that uses prior knowledge to improve network reconstruction, showing better performance than statistical cutoffs across multiple datasets.

Genetic architecture of host proteins interacting with SARS-CoV-2

The paper integrates genomic and proteomic data to identify genetic variants influencing host proteins interacting with SARS-CoV-2, revealing potential drug targets and disease mechanisms.

The Alzheimer’s Disease Metabolome: Effects of Sex and APOE ε4 genotype

The paper investigates sex and APOE ε4 genotype effects on metabolic alterations in Alzheimer’s disease using stratified analysis of serum metabolites.

Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes

This study identifies genetic associations with metabolite levels across multiple cohorts and links these variants to clinical outcomes like type 2 diabetes and macular telangiectasia type 2.

Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels

This study identifies 11 genetic loci associated with salivary metabolites in 1,419 individuals, revealing novel saliva-specific associations and potential clinical applications.

Identifying differences in bile acid pathways for cholesterol clearance in Alzheimer’s disease using metabolic networks of human brain regions

The paper identifies differences in bile acid pathways for cholesterol clearance in Alzheimer’s disease by analyzing transcriptomes and metabolomics data from brain samples.

Network based conditional genome wide association analysis of human metabolomics

The paper introduces a network-based conditional GWAS method to analyze metabolomics data, identifying additional loci by improving genetic effect precision and handling pleiotropic scenarios.

Altered Bile Acid Profile Associates with Cognitive Impairment in Alzheimer’s Disease – An Emerging Role for Gut Microbiome

The paper identifies altered bile acid profiles in Alzheimer's disease, linking them to cognitive impairment and genetic variants through a large study.

Altered Bile Acid Profile in Mild Cognitive Impairment and Alzheimer’s Disease: Relationship to Neuroimaging and CSF Biomarkers

The paper identifies associations between serum bile acid metabolites and AD biomarkers in the A/T/N framework, suggesting a potential role for bile acid pathways in AD pathophysiology.

Characterization of missing values in untargeted MS-based metabolomics data and evaluation of missing data handling strategies

The paper evaluates missing data handling strategies in untargeted metabolomics data, finding that KNN imputation with variable pre-selection is robust across multiple evaluation schemes.

MoDentify: a tool for phenotype-driven module identification in multilevel metabolomics networks

MoDentify identifies regulated metabolomics modules driven by phenotypes across different resolution levels, offering higher statistical power than classical methods.

Genetic diagnosis of Mendelian disorders via RNA sequencing

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.

Connecting genetic risk to disease endpoints through the human blood plasma proteome

The paper performs a GWAS on blood plasma proteome data from two cohorts to identify SNP-protein associations linked to various diseases and creates a genome-proteome network and web tool for analysis.