A central hallmark of Parkinson's disease (PD) is the spread of -Synuclein (-Syn) aggregates, which is thought to contribute to its progressive nature. To better understand the mechanism of cellular internalization of -Syn fibrils, we conducted a genome wide CRISPR activation (CRISPRa) screen to identify genetic modifi...
N. Karpilovsky, T. Goiran, K. Senkevich et al.· medRxiv· 0 citations
Recent evidence suggests that TMEM106B expression is reduced in the brains of patients with Parkinson's disease (PD). However, an association between rare genetic variants in TMEM106B and PD risk has not been previously established. In this work, we investigated the association between rare TMEM106B variants and PD ris...
H. M. Chaparro-Solano, S. Kanagasingam, Z. Gan-or et al.· medRxiv· 0 citations
The present study reveals established and novel genetic modulators of potential α-synucleinopathy biomarkers, demonstrating that genetic background significantly shapes biomarker levels.
E. Somerville, Lang Liu, M. Ta et al.· Research Square· 0 citations
Rare variants in dystonia-related genes are not major contributors to overall PD risk, and signals observed in the EOPD subset require replication in larger cohorts.
S. Kanagasingam, S. C. Parlar, Lang Liu et al.· Movement Disorders· 0 citations
GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.
J. Shin, M. T. Periñán, J. W. Jang et al.· medRxiv· 0 citations
