Alexander Y. Pantelyat

Targeted α-Synuclein mRNA Degradation by PMO-Based RNA-Degrading Chimeras

This paper develops PMO-based RNA-degrading chimeras that target SNCA mRNA to reduce α-synuclein levels and prevent pathological aggregation in vitro and in vivo.

Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia

This study examines sex differences in clinical progression of autosomal dominant frontotemporal dementia, finding females show more rapid declines in symptomatic stages and less sensitive NfL prognostic value.

Biomarker discovery in progressive supranuclear palsy from human cerebrospinal fluid using mass spectrometry-based proteomics

The paper identifies potential biomarkers for progressive supranuclear palsy (PSP) in cerebrospinal fluid using proteomics, finding ATP6AP2 as the top performer in distinguishing PSP from Parkinson's Disease and controls.

Genome-wide association study of autopsy-confirmed Multiple System Atrophy identifies common variants near ZIC1 and ZIC4

Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy

The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.

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.