Peter Paul Pramstaller

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

This paper identifies a novel genetic locus associated with olfactory dysfunction through a genome-wide association study meta-analysis and shows causal links to various health outcomes.

The paper identifies a variant in DSP associated with QRS interval and shows that DSP-AS1 regulates DSP expression through functional and Mendelian randomization analyses.

This study shows that increasing SLP-2 levels reduces alpha-synuclein-induced mitochondrial damage and neurodegeneration in Parkinson's disease models.

Haplomics is a Snakemake pipeline for haplotype-based association analysis in GWAS loci, identifying significant associations in a multi-omics study.

The paper develops an improved polygenic score for idiopathic Parkinson's disease, showing higher discriminative performance and explaining variable penetrance in genetic forms of the disease.

The paper identifies haplotypes at the FAM47E-SHROOM3 locus associated with kidney function, electrolyte, and hematological traits in a population sample.

This study identifies STL-1/SLP-2 as a sensor of oxidative stress that activates the mitochondrial unfolded protein response through interaction with phosphatidic acid.

This study shows dopamine affects iron homeostasis and mitochondrial function in healthy cells and can restore these processes in Parkinson's disease neurons.

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

This study shows that RIT2 inhibits LRRK2 kinase activity, reduces aSyn inclusions, and protects neurons in Parkinson's disease models.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.