Cyrus P. Zabetian

Genome-wide association study of copy number variations in Parkinson's disease

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

GBA1 deficiency differentially affects endolysosomal trafficking in neurons versus astrocytes

This study models GBA1 deficiency in neurons and astrocytes using iPSCs, revealing cell-type specific endolysosomal trafficking defects and -synucleinopathy in neurons, while astrocytes show neurotoxic reactivity.

α-Synuclein Strain Dynamics Predict Cognitive Transitions in Parkinson's Disease

The paper identifies distinct α-synuclein strains associated with cognitive decline in Parkinson's disease and shows AI-based analysis of these strains improves clinical stratification.

X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson Disease

The paper conducts an X-chromosome association study in Latin American cohorts, identifying new loci linked to Parkinson Disease and replicating previous findings.

Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort

The paper constructs and validates a polygenic risk score for Parkinson's disease in a Latino cohort, finding ancestry-related biases and haplotype associations at the SNCA locus.

Homozygous CADPS2 mutations cause neurodegenerative disease with Lewy bodies in parrots

This study identifies a homozygous CADPS2 mutation in parrots causing neurodegenerative disease with Lewy bodies and reduced proteasome activity.

Characterizing the genetic architecture of Parkinson's disease in Latinos

This study conducts the first GWAS of Parkinson's disease in Latinos, identifies SNCA as significant, and finds genetic overlap with Europeans.

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.

An aging clock using metabolomic CSF

This paper develops a metabolomic age prediction model using CSF data from healthy humans and applies it to Alzheimer's and Parkinson's patients, finding increased prediction error in disease cohorts.

Human-genome gut-microbiome interaction in Parkinson's disease

The paper shows that genetic variants at the alpha-synuclein locus influence gut microbiome dysbiosis in Parkinson's disease.

Genome-wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.

Characterizing dysbiosis of gut microbiome in PD: Evidence for overabundance of opportunistic pathogens

This study identifies three clusters of gut microbiota associated with Parkinson's disease, including overabundance of opportunistic pathogens.

CSF sTREM2 correlates with CSF tau in advancing Parkinson’s disease

The paper examines the correlation between CSF sTREM2 and CSF tau levels in Parkinson’s disease and finds that sTREM2 is elevated in PD subgroups with abnormal tau but not Aβ.