Thomas Gasser

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.

Single-cell transcriptomic changes in oligodendroglial lineage cells derived from Parkinson's disease patient-iPSCs with LRRK2-G2019S mutation

The paper investigates transcriptomic changes in oligodendroglial lineage cells from PD patient-iPSCs with LRRK2-G2019S mutation, identifying altered pathways and signaling in OPCs and ODCs.

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.

Comprehensive investigation of AAV tropism across human iPSC-derived neuronal subtypes

This study evaluates AAV transduction efficiency and toxicity across human iPSC-derived neuronal subtypes, identifying optimal serotypes for gene delivery in vitro.

TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

Cellular and Extracellular microRNA Dysregulation in LRRK2-Linked Parkinson's Disease

This study identifies differentially expressed micro-RNAs in LRRK2 G2019S mutation carriers using induced pluripotent stem cell-derived neurons, showing no linear correlation with LRRK2 activity.

Rescue of the increased susceptibility to Mild Chronic Oxidative Stress of iNeurons carrying the MAPT Chromosome 17q21.3 H1/H1 risk allele by FDA-approved compounds

The paper investigates how the H1/H1 risk allele at the MAPT locus increases susceptibility to mild chronic oxidative stress in iNeurons and identifies FDA-approved compounds that rescue this vulnerability.

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.

PINK1 regulates cholesterol homeostasis via SCAP phosphorylation in human dopaminergic neurons

This study shows that PINK1 regulates cholesterol homeostasis in human dopaminergic neurons by phosphorylating SCAP, and restoring cholesterol levels rescues defects in neurotransmitter uptake.

The Parkinsons disease associated Leucine-rich repeat kinase 2 affects expression of Transferrin receptor 1 and phosphorylation of key signaling proteins in human iPSC-derived dopaminergic neurons

This study shows that LRRK2 variants affect TfR expression and phosphorylation of GSK-3β and Akt in PD patient-derived dopaminergic neurons.

The Cellular and Extra-Cellular Proteomic Signature of Human Dopaminergic Neurons Carrying the LRRK2 G2019S Mutation

The paper characterizes the proteomic changes in dopaminergic neurons with the LRRK2 G2019S mutation and identifies potential biomarkers for Parkinson's disease.

Transcriptomic changes in oligodendrocytes and precursor cells predicts clinical outcomes of Parkinsons disease

The paper identifies transcriptomic changes in oligodendrocytes and precursor cells linked to Parkinson's disease outcomes and shows their predictive value for cognitive and depressive symptoms.

Understanding monogenic Parkinson's disease at a global scale

This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

Using Extracellular miRNA Signatures to Identify Patients with LRRK2-Related Parkinson's Disease

The paper evaluates extracellular miRNA signatures in plasma and CSF to distinguish LRRK2 mutation carriers from sporadic Parkinson's disease patients and healthy controls.

Global Parkinson's Genetics Program (GP2) Complex Network Protocol: Defining the causes of sporadic Parkinson's disease

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

Assessment of SLC25A46 variants in Parkinson's disease

The paper investigates SLC25A46 variants in Parkinson's disease using whole-genome sequencing data and finds no significant association with PD in European ancestry populations.

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.

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

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.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

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.

Interferon-γ signaling synergizes with LRRK2 in human neurons and microglia

This study shows that IFN-γ and LRRK2 synergize in human neurons and microglia, leading to defects in neurite elongation and microglial activation.

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.

PINK1 Regulates Dopamine and Lipids at Mitochondria to Maintain Synapses and Neuronal Function

This study identifies PINK1's role in regulating mitochondrial function, lipid metabolism, and dopamine homeostasis in dopaminergic neurons, showing that cholesterol depletion can reverse PINK1-related phenotypes.

A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease

This study identifies shared genetic loci between multiple system atrophy and inflammatory bowel disease using conjFDR, highlighting immune and gut-related molecular mechanisms.

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.