Kathrin Brockmann

Lysosomal polygenic risk score in Parkinson's disease across populations.

This study evaluates the performance of a lysosomal polygenic risk score (lyso-PRS) for Parkinson's disease risk across populations and its association with clinical outcomes in Europeans.

Glycosylation of anandamide and other bioactive N-acylethanolamines in mammalian cells and tissues

The paper identifies NAE glycosylation as a metabolic pathway that links endocannabinoid metabolism to lysosomal dysfunction and inflammation.

Unraveling the Genetic Overlap Between Parkinson's Disease and Schizophrenia Through Genome-wide Association and Cell-Type Specific Transcriptomic Analysis

This study identifies shared genetic loci between Parkinson's disease and schizophrenia using GWAS and scRNA-seq, highlighting RAI1's role in mitochondrial dysfunction and non-motor symptoms.

Genome-wide association study of REM sleep behavior disorder in Parkinson's disease

This study identifies genetic variants associated with REM sleep behavior disorder in Parkinson's disease and explores genetic correlations with neuropsychiatric traits.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Investigation of Autosomal Genetic Sex Differences in Parkinsons disease

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinsons disease

The paper examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

Gut microbiome signatures of risk and prodromal markers of Parkinson's disease

The paper investigates associations between gut microbiome composition and risk/prodromal markers of Parkinson's disease in elderly participants.

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia

The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.